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Article

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

Journal of neuromuscular diseases - 1 Jan 2017

Samões Raquel, Oliveira Jorge, Taipa Ricardo, Coelho Teresa, Cardoso Márcio, Gonçalves Ana, Santos Rosário, Melo Pires Manuel, Santos Manuela

Abstract excerpt

BACKGROUND: Pathogenic variants in ryanodine receptor type 1 (RYR1) gene are an important cause of congenital myopathy. The clinical, histopathologic and genetic spectrum is wide. OBJECTIVE: Review a group of the patients diagnosed with ryanodinopathy in a tertiary centre from North Portugal, as an attempt to define some phenotypical patterns that may help guiding future diagnosis. METHODS: Patients were...

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Source

Identifiers

PMID: 28269792
DOI: 10.3233/JND-160199

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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