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

A man was identified with two X-chromosomal neuromuscular disorders, X-link ed Charcot-Marie-Tooth disease (CMTX) and Becker muscular dystrophy (BMD), The neuropathy could be tracked in the family and was Sound to be caused by a mutation in the connexin32 gene on Xq13.1. The muscular dystrophy was sp oradic owing to a de novo deletion in the dystrophin gene located in band X p21.2. Although these genetic alterations of the same X-chromosome are cons idered as physically independent, their combination resulted in a unique ph enotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions. (C) 2000 John Wiley & Sons, Inc.