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Article

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Journal of neurology - 1 Jun 2013

Løseth Sissel, Voermans Nicol C, Torbergsen Torberg, Lillis Sue, Jonsrud Christoffer, Lindal Sigurd, Kamsteeg Erik-Jan, Lammens Martin, Broman Marcus, Dekomien Gabriele, Maddison Paul, Muntoni Francesco, Sewry Caroline, Radunovic Aleksandar, de Visser Marianne, Straub Volker, van Engelen Baziel, Jungbluth Heinz

Abstract excerpt

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of inherited neuromuscular disorders and have been associated with a wide clinical spectrum, ranging from various congenital myopathies to the malignant hyperthermia susceptibility (MHS) trait without any associate...

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Identifiers

PMID: 23329375
DOI: 10.1007/s00415-012-6817-7

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23329375-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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