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2006:
Toriumi Yoshitaka; Takusa Yuichi; Uchiyama Atsushi; Kimura Masahiko; Sejima Hitoshi; Yamaguchi Seiji; Eda Isematsu; Nishino Ichizo; Nonaka Ikuya
Distal myopathy with rimmed vacuoles in a case of opercular syndrome.
Brain & development 2006;
28(
7):.
We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM). Our results indicate the possibility that other organs such as the central nervous system could be affected in DMRV/HIBM, although bilateral opercular lesions might have been caused by destructive events either in utero or in the perinatal period.
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