Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.
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.
Bergmann
C
C
Institut für Neuropathologie der Rheinisch-Westfälischen Technischen Hochschule, Pauwelsstrasse 30, D-52074 Aachen, Germany.
Senderek
J
J
Hermanns
B
B
Jauch
A
A
Janssen
B
B
Schröder
J M
JM
Karch
D
D
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D017630:Connexins / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein