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Article

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence].

Revista de neurologia - 1 Apr 2024

Del Arco-Guzmán N, Lobato-López S, Calvo-Medina R, Vera-Medialdea R, Ruiz-Pérez C, Ramos-Fernández J M

Abstract excerpt

INTRODUCTION: Ryanodine receptor type 1-related myopathies (RYR1-RM) represent the most prevalent category of congenital myopathies. The introduction of genetic techniques has shifted the diagnostic paradigm, suggesting the prioritization of molecular studies over biopsies. This study aims to explore the clinical and epidemiological characteristics of patients with RYR1 gene variants in a tertiary pediatric...

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Source

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Identifiers

PMID: 38502166
DOI: 10.33588/rn.7807.2023348
PMCID: PMC11407453

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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