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Case Reports
. 2000 May;23(5):818-23.
doi: 10.1002/(sici)1097-4598(200005)23:5<818::aid-mus23>3.0.co;2-o.

Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy

C Bergmann  1 , J Senderek, B Hermanns, A Jauch, B Janssen, J M Schröder, D Karch
Affiliations
Case Reports

Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy

C Bergmann et al. Muscle Nerve. 2000 May.

Abstract

A man was identified with two X-chromosomal neuromuscular disorders, X-linked Charcot-Marie-Tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.

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