TY - JOUR
T1 - 'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
AU - D'Amico, Adele
AU - Fattori, Fabiana
AU - Fiorillo, Chiara
AU - Paglietti, Maria Giovanna
AU - Testa, Maria Beatrice Chiarini
AU - Verardo, Margherita
AU - Catteruccia, Michela
AU - Bruno, Claudio
AU - Bertini, Enrico
N1 - Copyright © 2019. Published by Elsevier B.V.
PY - 2019/10
Y1 - 2019/10
N2 - 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.
AB - 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.
U2 - 10.1016/j.nmd.2019.09.005
DO - 10.1016/j.nmd.2019.09.005
M3 - Article
C2 - 31604653
VL - 29
SP - 766
EP - 770
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 10
ER -