title: Neuromuscular features in the camera-marugo-cohen syndrome.
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.
authors.affiliation: Department of Neurology, Faculty of Health Sciences, Tsukuba University of Technology, Tsukuba-city, Japan.ohkoshin@k.tsukuba-tech.ac.jp
authors.forename: Norio
authors.initials: N
authors.lastname: Ohkoshi
authors.forename: Sayoko
authors.initials: S
authors.lastname: Matsuno-Yoshida
authors.forename: Masahiko
authors.initials: M
authors.lastname: Watanabe
authors.forename: Akira
authors.initials: A
authors.lastname: Tamaoka
mesh_terms: D000328:Adult; D004576:Electromyography / Q000379:methods; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000473:pathology; D008297:Male; D018908:Muscle Weakness / Q000150:complications* / Q000473:pathology; D009431:Neural Conduction / Q000502:physiology; D009468:Neuromuscular Diseases / Q000150:complications*; D009765:Obesity / Q000150:complications* / Q000473:pathology; D014570:Urologic Diseases / Q000150:complications* / Q000473:pathology