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Article

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.

Neurology - 26 Dec 2006

Fischer D, Herasse M, Ferreiro A, Barragán-Campos H M, Chiras J, Viollet L, Maugenre S, Leroy J-P, Monnier N, Lunardi J, Guicheney P, Fardeau M, Romero N B

Abstract excerpt

OBJECTIVE: To characterize the muscle involvement of patients with central core disease (CCD) caused by mutations in the ryanodine receptor 1 gene (RYR1) and to compare these findings with those from patients with core myopathies unlinked to the RYR1 gene. METHODS: We performed a systematic muscular imaging assessment in 11 patients with an RYR1 gene mutation and compared these findings with those of 5 patients...

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Source

Identifiers

PMID: 17190947
DOI: 10.1212/01.wnl.0000249151.45200.71

Genes

RYR1
ACTA1
MYH7

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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