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Article

Distal myopathy with rimmed vacuoles in a case of opercular syndrome.

Brain & development - 1 Aug 2006

Toriumi Yoshitaka, Takusa Yuichi, Uchiyama Atsushi, Kimura Masahiko, Sejima Hitoshi, Yamaguchi Seiji, Eda Isematsu, Nishino Ichizo, Nonaka Ikuya

Abstract excerpt

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)....

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Source

Identifiers

PMID: 16503389
DOI: 10.1016/j.braindev.2005.12.005

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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