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Article

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case.

Neurology India - 1 Jan 2000

Kannan Meena A, Challa S, Urtizberea Andoni J, Krahn Martin, Jabeen A S, Borgohain R

Abstract excerpt

Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic acid. Although reported predominantly from Japan, cases have been reported from other parts of the world. We report the first genetically proven case of DMRV from India in a 23-year-old male with gradual onset,...

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Source

Identifiers

PMID: 23287327
DOI: 10.4103/0028-3886.105199

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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