'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.

• Authors: Adele D'Amico, Fabiana Fattori, Chiara Fiorillo, Maria Giovanna Paglietti, Maria Beatrice Chiarini Testa, Margherita Verardo, Michela Catteruccia, Claudio Bruno, Enrico Bertini
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 29 Issue 10 Pg. 766-770 (10 2019) ISSN: 1873-2364 [Electronic] England
• PMID: 31604653 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2019. Published by Elsevier B.V.

Chemical References

• Troponin I

Topics

• Female
• Homozygote
• Humans
• Infant
• Muscle, Skeletal (pathology)
• Mutation (genetics)
• Myopathies, Nemaline (diagnosis, genetics)
• Pedigree
• Phenotype
• Siblings
• Troponin I (genetics)