'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.
Nemaline myopathy
Pectus carinatum
Rod bodies
TNNT1
Tropomyosin I
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
04
03
2019
revised:
10
06
2019
accepted:
02
09
2019
pubmed:
13
10
2019
medline:
22
8
2020
entrez:
13
10
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31604653
pii: S0960-8966(19)31112-5
doi: 10.1016/j.nmd.2019.09.005
pii:
doi:
Substances chimiques
Troponin I
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
766-770Informations de copyright
Copyright © 2019. Published by Elsevier B.V.