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- Title
Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.
- Authors
Bergmann, Carsten; Senderek, Jan; Hermanns, Benita; Jauch, Anna; Janssen, Bart; Schröder, J. Michael; Karch, Dieter; Bergmann, C; Senderek, J; Hermanns, B; Jauch, A; Janssen, B; Schröder, J M; Karch, D
- 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.
- Publication
Muscle & Nerve, 2000, Vol 23, Issue 5, p818
- ISSN
0148-639X
- Publication type
journal article
- DOI
10.1002/(SICI)1097-4598(200005)23:5<818::AID-MUS23>3.0.CO;2-O