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Article

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Neurology - 11 Apr 2017

Tomaselli Pedro J, Rossor Alexander M, Horga Alejandro, Jaunmuktane Zane, Carr Aisling, Saveri Paola, Piscosquito Giuseppe, Pareyson Davide, Laura Matilde, Blake Julian C, Poh Roy, Polke James, Houlden Henry, Reilly Mary M

Abstract excerpt

OBJECTIVE: To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1). METHODS: Mutations were identified by bidirectional Sanger sequence analysis of the 595 bases of the upstream promoter region, and 25 bases of the 3' untranslated region (UTR) sequence in patients in...

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Identifiers

PMID: 28283593
DOI: 10.1212/WNL.0000000000003819
PMCID: PMC5386440

Genes

GJB1

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