article_metadata: 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
article_metadata: 10.3389/fneur.2018.01027
article_metadata: Front Neurol
article_metadata: 2018 Nov 28;9:1027.
article_metadata: dux4 gene smchd1 gene facioscapulohumeral muscular dystrophy familial investigation genetic counseling methylation analysis neuromuscular symptoms
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/30546343/
article_metadata: Case Reports
article_metadata: PMC6279899
article_metadata: 30546343
article_metadata: Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
article_metadata: 2018