Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease
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 |
ISSN: | 09608966 |
---|---|
DOI: | 10.1016/j.nmd.2017.01.008 |
Published in: | Neuromuscular Disorders |
Language: | English |