Author/Authors :
Yoshitaka Toriumi، نويسنده , , Yuichi Takusa، نويسنده , , Atsushi Uchiyama، نويسنده , , Masahiko Kimura، نويسنده , , Hitoshi Sejima، نويسنده , , Seiji Yamaguchi، نويسنده , , Isematsu Eda، نويسنده , , Ichizo Nishino، نويسنده , , Ikuya Nonaka، نويسنده ,
Abstract :
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.
Keywords :
Opercular syndrome , Rimmed vacuoles , GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase) gene , Hereditary inclusion body myopathy (HIBM) , Distal myopathy with rimmed vacuoles (DMRV)
