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Article

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Neurology - 24 Dec 2002

Nelis E, Erdem S, Van Den Bergh P Y K, Belpaire-Dethiou M-C, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen A A W M, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V

Abstract excerpt

BACKGROUND: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR) demyelinating Charcot-Marie-Tooth disease (CMT) type 4A (CMT4A) as well as AR axonal CMT with vocal cord paralysis. METHODS: The coding region of GDAP1 was screened for the presence of mutations in seven families with AR CMT in which the patients...

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Identifiers

PMID: 12499475
DOI: 10.1212/01.wnl.0000036272.36047.54

Genes

GDAP1

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.PMID 12499475Read ↗

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.Semantic proximity Read ↗

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.Semantic proximity Read ↗

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.Semantic proximity Read ↗

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.Semantic proximity Read ↗

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.Semantic proximity Read ↗

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.Semantic proximity Read ↗

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.Semantic proximity Read ↗

Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effectsSemantic proximity Read ↗

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.Semantic proximity Read ↗

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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