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Updated: Jul 6, 2026

Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Published on: December 8, 2021
Neuromuscular features in the camera-marugo-cohen syndrome
Norio Ohkoshi1, Sayoko Matsuno-Yoshida, Masahiko Watanabe
1Department of Neurology, Faculty of Health Sciences, Tsukuba University of Technology, Tsukuba-city, Japan.ohkoshin@k.tsukuba-tech.ac.jp
Abstract:
We describe the case of a 24-year-old Japanese man suffering from obesity, mental retardation, muscle weakness, camptodactyly, syndactyly, and a urinary tract cleft. His muscle weakness, which was slightly distally dominant in the extremities, was almost static and showed slow progression for several years. He had normal blood chromosomes (46, XY) and showed normal levels of sex hormones. A needle electromyographic examination of the upper- and lower-limb muscles revealed a reinnervation pattern with large-amplitude, long-duration motor unit potentials. A muscle biopsy also showed denervation and reinnervation patterns, with small-group atrophy and type grouping, with numerous small, angulated fibers. Our findings suggest that these neuromuscular features of the Camera-Marugo-Cohen syndrome are caused by neurogenic changes rather than myogenic changes.
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