Refereed journal article or data article (A1)

Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient

List of Authors: Martikainen MH, Majamaa K

Publication year: 2013

Journal: Neuromuscular Disorders

Journal name in source: Neuromuscular Disorders

Journal acronym: Neuromusc.Disord.

Volume number: 23

Issue number: 11

Number of pages: 3

ISSN: 0960-8966


Charcot-Marie-Tooth disease (CMT), which is the eponym for hereditary motor and sensory neuropathy (HMSN), affects similar to 1 in 2500 individuals. The most common subtype of X-linked CMT, CMTX1, is caused by mutations in GTRI, the gene encoding connexin 32, a gap junction protein in myelinated Schwann cells. We report a woman, who presented at the age of 56 years with gait unsteadiness and tingling in her feet. Clinical investigation revealed impaired sensation to pinprick, light touch and vibration in her distal lower limbs. Ankle reflexes were bilaterally absent. Sequencing revealed a novel heterozygous c.712C>T (p.R238C) mutation in the GTB1 gene. This mutation is predicted to result in the loss of disulfide bonds and thus in abnormal protein structure. In this woman, the reported novel GJR1 mutation resulted in sensory abnormalities, slowly progressive loss of distal lower limb strength, and notable loss of balance, with onset of symptoms late in adult age. (C) 2013 Elsevier B.V. All rights reserved.

Last updated on 2021-24-06 at 11:07