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Article

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

Neuromuscular disorders : NMD - 1 Jul 2017

García-Sobrino Tania, Blanco-Arias Patricia, Palau Francesc, Espinós Carmen, Ramirez Laura, Estela Anna, San Millán Beatriz, Arias Manuel, Sobrido María-Jesús, Pardo Julio

Abstract excerpt

There are few reports on axonal CMT due to dominant GDAP1 mutations. We describe two unrelated Spanish families with a dominant axonal CMT. A novel in frame GAA deletion in exon 5 of the GDAP1 gene (c.677_679del; p.R226del) was identified in both families. Disease onset varied from early childhood to adulthood. Affected family members complained of distal lower limb weakness, cramps and foot deformities with...

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Source

Identifiers

PMID: 28236508
DOI: 10.1016/j.nmd.2017.01.008

Genes

GDAP1
GAA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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