Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

Bibliographic Details
Title: Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease
Authors: García-Sobrino, Tania *, Blanco-Arias, Patricia, Palau, Francesc, Espinós, Carmen, Ramirez, Laura, Estela, Anna, San Millán, Beatriz, Arias, Manuel, Sobrido, María-Jesús *, Pardo, Julio
Source: In Neuromuscular Disorders July 2017 27(7):667-672
Database: ScienceDirect
More Details
ISSN:09608966
DOI:10.1016/j.nmd.2017.01.008
Published in:Neuromuscular Disorders
Language:English