Phenotypical features of a new dominant GDAP1 pathogenic variant (p.r226del) in axonal charcot-marie-tooth disease

Highlights • Two unrelated families with an autosomal dominant axonal CMT • The p.R226del variant was associated with large clinical variability • A novel founder dominant GDAP1 variant was found

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2017-07, Vol.27 (7), p.667-672
Main Authors: García-Sobrino, Tania, Blanco-Arias, Patricia, Palau, Francesc, Espinós, Carmen, Ramirez, Laura, Estela, Anna, Millán, Beatriz San, Gómez, Manuel Arias, Sobrido, María-Jesús, Fernández, Julio Pardo
Format: Article
Language:English
Subjects:
Adult
Aged
Axons - pathology
Charcot-Marie-Tooth
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - pathology
CMT2K
DNA Mutational Analysis
Exons - genetics
Family Health
Female
GDAP1 variants
HeLa Cells
Hereditary neuropathy
Humans
Male
Membrane Transport Proteins - metabolism
Middle Aged
Mitochondria - pathology
Mitochondria - ultrastructure
Mutation - genetics
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - metabolism
Neurology
Pathogenic mutation
Phenotype
Receptors, Cell Surface - metabolism
Spain
Sural Nerve - metabolism
Transfection
Young Adult
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Description
Summary:Highlights • Two unrelated families with an autosomal dominant axonal CMT • The p.R226del variant was associated with large clinical variability • A novel founder dominant GDAP1 variant was found
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2017.01.008