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Article

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

PloS one - 1 Jan 2013

Attali Ruben, Aharoni Sharon, Treves Susan, Rokach Ori, Becker Cohen Michal, Fellig Yakov, Straussberg Rachel, Dor Talya, Daana Muhannad, Mitrani-Rosenbaum Stella, Nevo Yoram

Abstract excerpt

We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle weakness. Absence of cores was noted in all p...

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Source

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Identifiers

PMID: 23894444
DOI: 10.1371/journal.pone.0069296
PMCID: PMC3722152

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23894444-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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