Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.

David Pellerin Asli AykanatBenjamin EllezamEmily C TroianoJason KaramchandaniMarie-Josée DicaireMarc PetitclercRebecca RobertsonXavier Allard-ChamardDenis BrunetChamindra G KonersmanJean MathieuJodi Warman ChardonVandana A GuptaAlan H BeggsBernard BraisNicolas Chrestian

Published in: Annals of neurology (2020)

This study expands the phenotypic spectrum of TNNT1 myopathy and provides functional evidence for the pathogenicity of the newly identified missense mutation. ANN NEUROL 2020;87:568-583.

Keyphrases

muscular dystrophy
late onset
intellectual disability
escherichia coli
autism spectrum disorder
early onset
biofilm formation