Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

doi:10.1007/s10048-013-0358-9

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Article

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Neurogenetics - 1 May 2013

Auranen Mari, Ylikallio Emil, Toppila Jussi, Somer Mirja, Kiuru-Enari Sari, Tyynismaa Henna

Abstract excerpt

We describe a founder mutation in the gene encoding ganglioside-induced differentiation associated-protein 1 (GDAP1), leading to amino acid change p.H123R, as a common cause of autosomal dominant axonal Charcot-Marie-Tooth (CMT2) neuropathy in Finland. The mutation explains up to 14 % of CMT2 in Finland, where most patients with axonal neuropathy have remained without molecular diagnosis. Only three families out...

Topics

Adolescent
Adult
Axons
Charcot-Marie-Tooth Disease
Child
Finland
GTP Phosphohydrolases
Genetic Predisposition to Disease
Humans
Middle Aged
Mitochondrial Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nerve Tissue Proteins

Pedigree

Phenotype

Polyneuropathies

Young Adult

Source

Open in PubMed

Identifiers

PMID: 23456260
DOI: 10.1007/s10048-013-0358-9

Genes

GDAP1
MFN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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