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Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Published on: December 8, 2021
Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy
C Bergmann1, J Senderek, B Hermanns
1Institut für Neuropathologie der Rheinisch-Westfälischen Technischen Hochschule, Pauwelsstrasse 30, D-52074 Aachen, Germany.
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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