Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.

Paloma Martín-JiménezCarlos Pablo de Fuenmayor-Fernández de la HozAurelio Hernández-LaínAna Arteche-LópezJuan Francisco Quesada-EspinosaAna Hernández VothAna VesperinasMontse OlivéCristina Domínguez-González

Published in: Muscle & nerve (2022)

Keyphrases

late onset
copy number
genome wide
genome wide identification
muscular dystrophy
dna methylation
early onset