‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, p...
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Autor*in:	D'Amico, Adele [verfasserIn] Fattori, Fabiana [verfasserIn] Fiorillo, Chiara [verfasserIn] Paglietti, Maria Giovanna [verfasserIn] Testa, Maria Beatrice Chiarini [verfasserIn] Verardo, Margherita [verfasserIn] Catteruccia, Michela [verfasserIn] Bruno, Claudio [verfasserIn] Bertini, Enrico [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Pectus carinatum Nemaline myopathy Rod bodies Tropomyosin I

Übergeordnetes Werk:	Enthalten in: Neuromuscular disorders - Amsterdam [u.a.] : Elsevier Science, 1991, 29, Seite 766-770
Übergeordnetes Werk:	volume:29 ; pages:766-770

DOI / URN:	10.1016/j.nmd.2019.09.005

Katalog-ID:	ELV003042405

Internformat


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520			\|a Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures.
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650		4	\|a Nemaline myopathy
650		4	\|a Rod bodies
650		4	\|a Tropomyosin I
700	1		\|a Fattori, Fabiana \|e verfasserin \|4 aut
700	1		\|a Fiorillo, Chiara \|e verfasserin \|4 aut
700	1		\|a Paglietti, Maria Giovanna \|e verfasserin \|4 aut
700	1		\|a Testa, Maria Beatrice Chiarini \|e verfasserin \|4 aut
700	1		\|a Verardo, Margherita \|e verfasserin \|4 aut
700	1		\|a Catteruccia, Michela \|e verfasserin \|4 aut
700	1		\|a Bruno, Claudio \|e verfasserin \|4 aut
700	1		\|a Bertini, Enrico \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Neuromuscular disorders \|d Amsterdam [u.a.] : Elsevier Science, 1991 \|g 29, Seite 766-770 \|h Online-Ressource \|w (DE-627)320469093 \|w (DE-600)2008287-3 \|w (DE-576)094505535 \|x 1873-2364 \|7 nnns
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912			\|a GBV_ILN_65
912			\|a GBV_ILN_69
912			\|a GBV_ILN_70
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_90
912			\|a GBV_ILN_95
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912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_151
912			\|a GBV_ILN_224
912			\|a GBV_ILN_370
912			\|a GBV_ILN_602
912			\|a GBV_ILN_702
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912			\|a GBV_ILN_2004
912			\|a GBV_ILN_2005
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912			\|a GBV_ILN_2020
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912			\|a GBV_ILN_2027
912			\|a GBV_ILN_2034
912			\|a GBV_ILN_2038
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2049
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2056
912			\|a GBV_ILN_2059
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2064
912			\|a GBV_ILN_2065
912			\|a GBV_ILN_2068
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2112
912			\|a GBV_ILN_2113
912			\|a GBV_ILN_2118
912			\|a GBV_ILN_2122
912			\|a GBV_ILN_2129
912			\|a GBV_ILN_2143
912			\|a GBV_ILN_2147
912			\|a GBV_ILN_2148
912			\|a GBV_ILN_2152
912			\|a GBV_ILN_2153
912			\|a GBV_ILN_2190
912			\|a GBV_ILN_2336
912			\|a GBV_ILN_2507
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912			\|a GBV_ILN_4035
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4112
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912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4242
912			\|a GBV_ILN_4251
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912			\|a GBV_ILN_4313
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912			\|a GBV_ILN_4326
912			\|a GBV_ILN_4333
912			\|a GBV_ILN_4334
912			\|a GBV_ILN_4335
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4393
936	b	k	\|a 44.90 \|j Neurologie
951			\|a AR
952			\|d 29 \|h 766-770

Indexfelder

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matchkey_str	article:18732364:2019----::msnmlnmoahi2tlasbighrornaoehmzgum
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publishDate	2019
allfields	10.1016/j.nmd.2019.09.005 doi (DE-627)ELV003042405 (ELSEVIER)S0960-8966(19)31112-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl D'Amico, Adele verfasserin aut ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures. Pectus carinatum Nemaline myopathy Rod bodies Tropomyosin I Fattori, Fabiana verfasserin aut Fiorillo, Chiara verfasserin aut Paglietti, Maria Giovanna verfasserin aut Testa, Maria Beatrice Chiarini verfasserin aut Verardo, Margherita verfasserin aut Catteruccia, Michela verfasserin aut Bruno, Claudio verfasserin aut Bertini, Enrico verfasserin aut Enthalten in Neuromuscular disorders Amsterdam [u.a.] : Elsevier Science, 1991 29, Seite 766-770 Online-Ressource (DE-627)320469093 (DE-600)2008287-3 (DE-576)094505535 1873-2364 nnns volume:29 pages:766-770 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 29 766-770
spelling	10.1016/j.nmd.2019.09.005 doi (DE-627)ELV003042405 (ELSEVIER)S0960-8966(19)31112-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl D'Amico, Adele verfasserin aut ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures. Pectus carinatum Nemaline myopathy Rod bodies Tropomyosin I Fattori, Fabiana verfasserin aut Fiorillo, Chiara verfasserin aut Paglietti, Maria Giovanna verfasserin aut Testa, Maria Beatrice Chiarini verfasserin aut Verardo, Margherita verfasserin aut Catteruccia, Michela verfasserin aut Bruno, Claudio verfasserin aut Bertini, Enrico verfasserin aut Enthalten in Neuromuscular disorders Amsterdam [u.a.] : Elsevier Science, 1991 29, Seite 766-770 Online-Ressource (DE-627)320469093 (DE-600)2008287-3 (DE-576)094505535 1873-2364 nnns volume:29 pages:766-770 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 29 766-770
allfields_unstemmed	10.1016/j.nmd.2019.09.005 doi (DE-627)ELV003042405 (ELSEVIER)S0960-8966(19)31112-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl D'Amico, Adele verfasserin aut ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures. Pectus carinatum Nemaline myopathy Rod bodies Tropomyosin I Fattori, Fabiana verfasserin aut Fiorillo, Chiara verfasserin aut Paglietti, Maria Giovanna verfasserin aut Testa, Maria Beatrice Chiarini verfasserin aut Verardo, Margherita verfasserin aut Catteruccia, Michela verfasserin aut Bruno, Claudio verfasserin aut Bertini, Enrico verfasserin aut Enthalten in Neuromuscular disorders Amsterdam [u.a.] : Elsevier Science, 1991 29, Seite 766-770 Online-Ressource (DE-627)320469093 (DE-600)2008287-3 (DE-576)094505535 1873-2364 nnns volume:29 pages:766-770 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 29 766-770
allfieldsGer	10.1016/j.nmd.2019.09.005 doi (DE-627)ELV003042405 (ELSEVIER)S0960-8966(19)31112-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl D'Amico, Adele verfasserin aut ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures. Pectus carinatum Nemaline myopathy Rod bodies Tropomyosin I Fattori, Fabiana verfasserin aut Fiorillo, Chiara verfasserin aut Paglietti, Maria Giovanna verfasserin aut Testa, Maria Beatrice Chiarini verfasserin aut Verardo, Margherita verfasserin aut Catteruccia, Michela verfasserin aut Bruno, Claudio verfasserin aut Bertini, Enrico verfasserin aut Enthalten in Neuromuscular disorders Amsterdam [u.a.] : Elsevier Science, 1991 29, Seite 766-770 Online-Ressource (DE-627)320469093 (DE-600)2008287-3 (DE-576)094505535 1873-2364 nnns volume:29 pages:766-770 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 29 766-770
allfieldsSound	10.1016/j.nmd.2019.09.005 doi (DE-627)ELV003042405 (ELSEVIER)S0960-8966(19)31112-5 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl D'Amico, Adele verfasserin aut ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures. Pectus carinatum Nemaline myopathy Rod bodies Tropomyosin I Fattori, Fabiana verfasserin aut Fiorillo, Chiara verfasserin aut Paglietti, Maria Giovanna verfasserin aut Testa, Maria Beatrice Chiarini verfasserin aut Verardo, Margherita verfasserin aut Catteruccia, Michela verfasserin aut Bruno, Claudio verfasserin aut Bertini, Enrico verfasserin aut Enthalten in Neuromuscular disorders Amsterdam [u.a.] : Elsevier Science, 1991 29, Seite 766-770 Online-Ressource (DE-627)320469093 (DE-600)2008287-3 (DE-576)094505535 1873-2364 nnns volume:29 pages:766-770 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 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_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.90 Neurologie AR 29 766-770
language	English
source	Enthalten in Neuromuscular disorders 29, Seite 766-770 volume:29 pages:766-770
sourceStr	Enthalten in Neuromuscular disorders 29, Seite 766-770 volume:29 pages:766-770
format_phy_str_mv	Article
bklname	Neurologie
institution	findex.gbv.de
topic_facet	Pectus carinatum Nemaline myopathy Rod bodies Tropomyosin I
dewey-raw	610
isfreeaccess_bool	false
container_title	Neuromuscular disorders
authorswithroles_txt_mv	D'Amico, Adele @@aut@@ Fattori, Fabiana @@aut@@ Fiorillo, Chiara @@aut@@ Paglietti, Maria Giovanna @@aut@@ Testa, Maria Beatrice Chiarini @@aut@@ Verardo, Margherita @@aut@@ Catteruccia, Michela @@aut@@ Bruno, Claudio @@aut@@ Bertini, Enrico @@aut@@
publishDateDaySort_date	2019-01-01T00:00:00Z
hierarchy_top_id	320469093
dewey-sort	3610
id	ELV003042405
language_de	englisch
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author	D'Amico, Adele
spellingShingle	D'Amico, Adele ddc 610 bkl 44.90 misc Pectus carinatum misc Nemaline myopathy misc Rod bodies misc Tropomyosin I ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
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topic_title	610 DE-600 44.90 bkl ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene Pectus carinatum Nemaline myopathy Rod bodies Tropomyosin I
topic	ddc 610 bkl 44.90 misc Pectus carinatum misc Nemaline myopathy misc Rod bodies misc Tropomyosin I
topic_unstemmed	ddc 610 bkl 44.90 misc Pectus carinatum misc Nemaline myopathy misc Rod bodies misc Tropomyosin I
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title	‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
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title_full	‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
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journal	Neuromuscular disorders
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author_browse	D'Amico, Adele Fattori, Fabiana Fiorillo, Chiara Paglietti, Maria Giovanna Testa, Maria Beatrice Chiarini Verardo, Margherita Catteruccia, Michela Bruno, Claudio Bertini, Enrico
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title_sort	‘amish nemaline myopathy’ in 2 italian siblings harbouring a novel homozygous mutation in troponin-i gene
title_auth	‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
abstract	Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures.
abstractGer	Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures.
abstract_unstemmed	Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle weakness and wasting, respiratory insufficiency, pectus carinatum deformity and failure to thrive. Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found. Our cases expand the mutational spectrum of TNNT1, confirm the invariable peculiar clinical phenotype also outside the Amish population, and suggest that TNNT1 should be considered for molecular analysis in NM patients with chest deformities and progressive contractures.
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title_short	‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
remote_bool	true
author2	Fattori, Fabiana Fiorillo, Chiara Paglietti, Maria Giovanna Testa, Maria Beatrice Chiarini Verardo, Margherita Catteruccia, Michela Bruno, Claudio Bertini, Enrico
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doi_str	10.1016/j.nmd.2019.09.005
up_date	2024-07-06T18:18:06.274Z
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‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

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