Raffaella Cascella Claudia Strafella Valerio Caputo Rosaria Maria Galota Valeria Errichiello Marianna Scutifero Roberta Petillo Gian Luca Marella Mauro Arcangeli Luca Colantoni Stefania Zampatti Enzo Ricci Giancarlo Deidda Luisa Politano Emiliano Giardina
10.3389/fneur.2018.01027
Front Neurol
2018 Nov 28;9:1027.
dux4 gene smchd1 gene facioscapulohumeral muscular dystrophy familial investigation genetic counseling methylation analysis neuromuscular symptoms
CC BY
https://pubmed.ncbi.nlm.nih.gov/30546343/
Case Reports
PMC6279899
30546343
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
2018