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Article

RYR1-related central core myopathy in a Chinese adolescent boy.

Hong Kong medical journal = Xianggang yi xue za zhi - 1 Feb 2011

Chan B, Chen S P L, Wong W C, Mak C M, Wong S, Chan K Y, Chan A Y W

Abstract excerpt

Central core myopathy is a rare, inherited neuromuscular disorder with a wide spectrum of phenotypic presentations. It is also considered an allelic disease of malignant hyperthermia. We report a case of central core myopathy in a Chinese adolescent boy presenting with atypical clinical features and a moderately elevated serum creatine kinase level. The diagnosis was made from the histopathological findings of...

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Identifiers

PMID: 21282829

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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