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Article

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Aug 2006

Georgiou Domna-Maria, Nicolaou Paschalis, Chitayat David, Koutsou Pantelitsa, Babul-Hirji Riyana, Vajsar Jiri, Murphy Jillian, Christodoulou Kyproula

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes have been...

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Source

Identifiers

PMID: 17001820
DOI: 10.1017/s0317167100005199

Genes

GDAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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