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Article

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

Journal of medical genetics - 1 Oct 2010

Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo M G, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi M T

Abstract excerpt

BACKGROUND: Mutations in GDAP1 associate with demyelinating (CMT4A) and axonal (CMT2K) forms of CMT. While CMT4A shows recessive inheritance, CMT2K can present with either recessive (AR-CMT2K) or dominant segregation pattern (AD-CMT2K), the latter being characterised by milder phenotypes and later onset. The majority of the GDAP1 mutations are associated with CMT4A and AR-CMT2K, with only four heterozygous...

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Source

Identifiers

PMID: 20685671
DOI: 10.1136/jmg.2010.077909

Genes

GDAP1

Variants

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