AI Article Synopsis
- A novel mutation in the GJB1 gene was identified in a Chinese family affected by X-linked Charcot-Marie-Tooth disease (CMTX1), leading to specific changes in nerve function.
- Clinical examinations of the family revealed CMT symptoms in most members, with unique electrophysiological findings such as slowed motor conduction and nerve conduction blocks.
- Sural nerve biopsies confirmed demyelinating neuropathy, and the specific Asn2Lys mutation was distinguished in affected family members, highlighting its role in the disease's impact.
Article Abstract
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.
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| http://dx.doi.org/10.1002/mus.21992 | DOI Listing |
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