Clinical and genetic characteristics of Chinese patients with reducing body myopathy
• We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhib...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Chen, Lei [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2021 |
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| Umfang: |
8 |
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| Übergeordnetes Werk: |
Enthalten in: Sperm competition in golden cuttlefish - Guo, Haoyu ELSEVIER, 2020, official journal of the World Muscle Society, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:31 ; year:2021 ; number:5 ; pages:442-449 ; extent:8 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.nmd.2021.02.009 |
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| 520 | |a • We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhibited asymmetric benign muscle involvements instead of a classic phenotype with early onset, symmetric and progressive generalized muscle weakness. | ||
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10.1016/j.nmd.2021.02.009 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001628.pica (DE-627)ELV054027187 (ELSEVIER)S0960-8966(21)00037-7 DE-627 ger DE-627 rakwb eng 570 550 VZ BIODIV DE-30 fid 48.68 bkl Chen, Lei verfasserin aut Clinical and genetic characteristics of Chinese patients with reducing body myopathy 2021 8 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhibited asymmetric benign muscle involvements instead of a classic phenotype with early onset, symmetric and progressive generalized muscle weakness. Lin, Hui-Xia oth Yang, Xin-Xia oth Chen, Dian-Fu oth Dong, Hai-Lin oth Yu, Hao oth Liu, Gong-Lu oth Wu, Zhi-Ying oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:31 year:2021 number:5 pages:442-449 extent:8 https://doi.org/10.1016/j.nmd.2021.02.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 31 2021 5 442-449 8 |
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10.1016/j.nmd.2021.02.009 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001628.pica (DE-627)ELV054027187 (ELSEVIER)S0960-8966(21)00037-7 DE-627 ger DE-627 rakwb eng 570 550 VZ BIODIV DE-30 fid 48.68 bkl Chen, Lei verfasserin aut Clinical and genetic characteristics of Chinese patients with reducing body myopathy 2021 8 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhibited asymmetric benign muscle involvements instead of a classic phenotype with early onset, symmetric and progressive generalized muscle weakness. Lin, Hui-Xia oth Yang, Xin-Xia oth Chen, Dian-Fu oth Dong, Hai-Lin oth Yu, Hao oth Liu, Gong-Lu oth Wu, Zhi-Ying oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:31 year:2021 number:5 pages:442-449 extent:8 https://doi.org/10.1016/j.nmd.2021.02.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 31 2021 5 442-449 8 |
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• We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhibited asymmetric benign muscle involvements instead of a classic phenotype with early onset, symmetric and progressive generalized muscle weakness. |
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• We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhibited asymmetric benign muscle involvements instead of a classic phenotype with early onset, symmetric and progressive generalized muscle weakness. |
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• We reported two novel mutations in two Chinese family with RBM. • By reviewing, we found that the most frequent pathogenic variants were identified in H123 residue (23.08%), followed by C153 residue (20.51%) and C150 residue (15.38%). • Our results indicated that familial female RBM patients exhibited asymmetric benign muscle involvements instead of a classic phenotype with early onset, symmetric and progressive generalized muscle weakness. |
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