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

Claudia Crimella | Zendy; A. Tonelli | Zendy; Giovanni Airoldi | Zendy; Cinzia Baschirotto | Zendy; Maria Grazia D’Angelo | Zendy; S. Bonato | Zendy; Luciana Losito | Zendy; Antonio Trabacca | Zendy; Nereo Bresolin | Zendy; Maria Teresa Bassi | Zendy

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

Author(s) -

Claudia Crimella,

A. Tonelli,

Giovanni Airoldi,

Cinzia Baschirotto,

Maria Grazia D’Angelo,

S. Bonato,

Luciana Losito,

Antonio Trabacca,

Nereo Bresolin,

Maria Teresa Bassi

Publication year - 2010

Publication title -

journal of medical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.439

H-Index - 170

eISSN - 1468-6244

pISSN - 0022-2593

DOI - 10.1136/jmg.2010.077909

Subject(s) - missense mutation , genetics , phenotype , biology , mutation , gene , disease , medicine , pathology

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 mutations identified in AD-CMT2K.

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