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Article

High frequency of SH3TC2 mutations in Czech HMSN I patients.

Clinical genetics - 1 Oct 2011

Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P

Abstract excerpt

Charcot-Marie-Tooth (CMT) neuropathy type 4C (CMT4C) is an autosomal recessive (AR), demyelinating neuropathy with early spine deformities caused by mutations in the SH3TC2 gene. To determine the spectrum of SH3TC2 mutations in the Czech population, the entire coding region of SH3TC2 was sequenced in 60 unrelated Czech patients. The prevalent mutation was shown to be the p.Arg954Stop. Therefore, 412 additional...

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Czech Republic
Charcot-Marie-Tooth Disease
Exons
Intracellular Signaling Peptides and Proteins
Mutation, Missense

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PMID: 21291453
DOI: 10.1111/j.1399-0004.2011.01640.x

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