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Article

Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2011

Pandey R, Chandratre S, Roberts A, Dwyer J S M, Sewry C, Quinlivan R

Abstract excerpt

We report the case of a male who presented in infancy with motor delay and muscle weakness. Typical muscle biopsy features and heterozygous RYR1 mutation confirmed a diagnosis of central core disease. Family studies showed this to be a de-novo mutation. Some years later, his two older teenage brothers presented with proximal muscle weakness. Neurophysiology, muscle biopsy and DNA studies confirmed spinal muscular...

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Source

Identifiers

PMID: 20452790
DOI: 10.1016/j.ejpn.2010.04.003

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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