Journal
MUSCLE & NERVE
Volume 43, Issue 6, Pages 887-892Publisher
WILEY
DOI: 10.1002/mus.21992
Keywords
Charcot-Marie-Tooth disease; electrophysiology; gap junction protein beta 1 gene; gene mutation; pathology
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Funding
- National Science Foundation of China [30870875]
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Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (GJB1) gene of a Chinese X-linked Charcot-Marie-Tooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clinical neurological examination and GJB1 gene mutation analysis, and 3 patients were studied electrophysiologically. The proband and his mother also underwent sural nerve biopsy. Results: All patients have the CMT phenotype, except for 2 asymptomatic carriers. Electrophysiological examinations showed non-uniform slowing of motor conduction velocities and partial motor conduction blocks and temporal dispersion. Sural nerve biopsy confirmed a predominantly demyelinating neuropathy, and an Asn2Lys mutation in the amino-terminal domain was found in 9 members of this family, but not in 25 normal controls in the family. Conclusions: This family represents a novel mutation in the GJB1 form of CMTX1. The mutation in the amino-terminus has an impact on the electrophysiological characteristics of the disease. Muscle Nerve 43: 887-892, 2011
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