Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients
Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Wang, Qi [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2021 |
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| Schlagwörter: |
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| Anmerkung: |
© Fondazione Società Italiana di Neurologia 2021 |
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| Übergeordnetes Werk: |
Enthalten in: Neurological sciences - Milano : Springer, 2000, 43(2021), 4 vom: 30. Sept., Seite 2803-2811 |
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| Übergeordnetes Werk: |
volume:43 ; year:2021 ; number:4 ; day:30 ; month:09 ; pages:2803-2811 |
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| DOI / URN: |
10.1007/s10072-021-05627-y |
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SPR046473629 |
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| 520 | |a Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. | ||
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| 700 | 1 | |a Wang, Zhaoxia |0 (orcid)0000-0002-8723-4242 |4 aut | |
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10.1007/s10072-021-05627-y doi (DE-627)SPR046473629 (SPR)s10072-021-05627-y-e DE-627 ger DE-627 rakwb eng Wang, Qi verfasserin (orcid)0000-0003-1906-5536 aut Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2021 Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. Centronuclear myopathy (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Chinese (dpeaa)DE-He213 Yu, Meng aut Xie, Zhiying aut Liu, Jing aut Wang, Qingqing aut Lv, He aut Zhang, Wei aut Yuan, Yun aut Wang, Zhaoxia (orcid)0000-0002-8723-4242 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2021), 4 vom: 30. Sept., Seite 2803-2811 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2021 number:4 day:30 month:09 pages:2803-2811 https://dx.doi.org/10.1007/s10072-021-05627-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2021 4 30 09 2803-2811 |
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10.1007/s10072-021-05627-y doi (DE-627)SPR046473629 (SPR)s10072-021-05627-y-e DE-627 ger DE-627 rakwb eng Wang, Qi verfasserin (orcid)0000-0003-1906-5536 aut Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2021 Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. Centronuclear myopathy (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Chinese (dpeaa)DE-He213 Yu, Meng aut Xie, Zhiying aut Liu, Jing aut Wang, Qingqing aut Lv, He aut Zhang, Wei aut Yuan, Yun aut Wang, Zhaoxia (orcid)0000-0002-8723-4242 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2021), 4 vom: 30. Sept., Seite 2803-2811 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2021 number:4 day:30 month:09 pages:2803-2811 https://dx.doi.org/10.1007/s10072-021-05627-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2021 4 30 09 2803-2811 |
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10.1007/s10072-021-05627-y doi (DE-627)SPR046473629 (SPR)s10072-021-05627-y-e DE-627 ger DE-627 rakwb eng Wang, Qi verfasserin (orcid)0000-0003-1906-5536 aut Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2021 Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. Centronuclear myopathy (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Chinese (dpeaa)DE-He213 Yu, Meng aut Xie, Zhiying aut Liu, Jing aut Wang, Qingqing aut Lv, He aut Zhang, Wei aut Yuan, Yun aut Wang, Zhaoxia (orcid)0000-0002-8723-4242 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2021), 4 vom: 30. Sept., Seite 2803-2811 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2021 number:4 day:30 month:09 pages:2803-2811 https://dx.doi.org/10.1007/s10072-021-05627-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2021 4 30 09 2803-2811 |
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10.1007/s10072-021-05627-y doi (DE-627)SPR046473629 (SPR)s10072-021-05627-y-e DE-627 ger DE-627 rakwb eng Wang, Qi verfasserin (orcid)0000-0003-1906-5536 aut Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2021 Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. Centronuclear myopathy (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Chinese (dpeaa)DE-He213 Yu, Meng aut Xie, Zhiying aut Liu, Jing aut Wang, Qingqing aut Lv, He aut Zhang, Wei aut Yuan, Yun aut Wang, Zhaoxia (orcid)0000-0002-8723-4242 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2021), 4 vom: 30. Sept., Seite 2803-2811 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2021 number:4 day:30 month:09 pages:2803-2811 https://dx.doi.org/10.1007/s10072-021-05627-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2021 4 30 09 2803-2811 |
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10.1007/s10072-021-05627-y doi (DE-627)SPR046473629 (SPR)s10072-021-05627-y-e DE-627 ger DE-627 rakwb eng Wang, Qi verfasserin (orcid)0000-0003-1906-5536 aut Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fondazione Società Italiana di Neurologia 2021 Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. Centronuclear myopathy (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Chinese (dpeaa)DE-He213 Yu, Meng aut Xie, Zhiying aut Liu, Jing aut Wang, Qingqing aut Lv, He aut Zhang, Wei aut Yuan, Yun aut Wang, Zhaoxia (orcid)0000-0002-8723-4242 aut Enthalten in Neurological sciences Milano : Springer, 2000 43(2021), 4 vom: 30. Sept., Seite 2803-2811 (DE-627)300187025 (DE-600)1481772-X 1590-3478 nnns volume:43 year:2021 number:4 day:30 month:09 pages:2803-2811 https://dx.doi.org/10.1007/s10072-021-05627-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 43 2021 4 30 09 2803-2811 |
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Enthalten in Neurological sciences 43(2021), 4 vom: 30. Sept., Seite 2803-2811 volume:43 year:2021 number:4 day:30 month:09 pages:2803-2811 |
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Wang, Qi @@aut@@ Yu, Meng @@aut@@ Xie, Zhiying @@aut@@ Liu, Jing @@aut@@ Wang, Qingqing @@aut@@ Lv, He @@aut@@ Zhang, Wei @@aut@@ Yuan, Yun @@aut@@ Wang, Zhaoxia @@aut@@ |
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In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. 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Wang, Qi |
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Wang, Qi misc Centronuclear myopathy misc Genotype misc Phenotype misc Chinese Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients |
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Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients Centronuclear myopathy (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Chinese (dpeaa)DE-He213 |
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misc Centronuclear myopathy misc Genotype misc Phenotype misc Chinese |
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Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients |
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Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients |
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Wang, Qi Yu, Meng Xie, Zhiying Liu, Jing Wang, Qingqing Lv, He Zhang, Wei Yuan, Yun Wang, Zhaoxia |
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mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of chinese patients |
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Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients |
| abstract |
Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. © Fondazione Società Italiana di Neurologia 2021 |
| abstractGer |
Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. © Fondazione Società Italiana di Neurologia 2021 |
| abstract_unstemmed |
Abstract Centronuclear myopathy (CNM) is a group of congenital myopathies with the histopathological findings of centralized nuclei in muscle fibres. In this study, we summarized the mutational spectrum and phenotypic features of nine Chinese patients with CNM and reanalysed the existing data on 32 CNM patients reported in China. In a cohort comprising nine patients, 14 variants were found in three CNM-related genes, including DNM2, RYR1, and TTN, in 4, 3, and 2 patients, respectively. Of the total 14 variants identified, nine were reported, and 5 were novel including one pathogenic, one likely pathogenic, and 3 of undetermined significance (VUS). Pathologically, we identified the percentage of muscle fibres with central nuclei was much higher in the DNM2-related CNM patients than that in other genetic type of CNM. Of the 32 genetic-diagnosed CNM patients previously reported from China, DNM2, MTM1, SPEG, RYR1, and MYH7 mutations accounted for 59.4%, 25.0%, 9.4%, 3.1%, and 3.1%, respectively. Notably, all of the 20 variants of DNM2 were missense mutations, and the missense mutations in exon 8 were found in 60.0% of DNM2 variants. The c.1106G > A/ p.R369Q (NM_001005360) occurred in 26.3% patients of this Chinese cohort with DNM2-CNM. In conclusion, CNM showed a highly variable genetic spectrum, with DNM2 as the most common causative gene in Chinese CNM patients. © Fondazione Società Italiana di Neurologia 2021 |
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| title_short |
Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients |
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https://dx.doi.org/10.1007/s10072-021-05627-y |
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Yu, Meng Xie, Zhiying Liu, Jing Wang, Qingqing Lv, He Zhang, Wei Yuan, Yun Wang, Zhaoxia |
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Yu, Meng Xie, Zhiying Liu, Jing Wang, Qingqing Lv, He Zhang, Wei Yuan, Yun Wang, Zhaoxia |
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10.1007/s10072-021-05627-y |
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| score |
7.401079 |