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Article

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

European journal of medical genetics - 1 Jan 2000

Hernandez-Lain Aurelio, Husson Isabelle, Monnier Nicole, Farnoux Caroline, Brochier Guy, Lacène Emmanuelle, Beuvin Maud, Viou Mait, Manéré Linda, Claeys Kristl G, Fardeau Michel, Lunardi Joël, Voit Thomas, Romero Norma Beatriz

Abstract excerpt

"Core-rod myopathy" is a rare congenital myopathy characterized by the presence of "cores" and "rods" in distinct locations in the same or different muscle fibres. This association is linked currently to mutations in RYR1, NEB and ACTA1 genes. We report identical twins who presented with polyhydramnios and loss of fetal motility during pregnancy; hypotonia, arthrogryposis and swallowing impairment at birth; need...

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Source

Identifiers

PMID: 20888934
DOI: 10.1016/j.ejmg.2010.09.009

Genes

RYR1
ACTA1
NEB

Variants

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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