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[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2014

Rudenskaia G E, Kadnikova V A, Poliakov A V

Abstract excerpt

RSMD1 is a rare autosomal recessive disorder. Unlike most congenital muscular dystrophies, early motor improvement and normal CPK are typical, while in contrast to structural myopathies there is no specific muscle morphology. Rigid spine, early scoliosis and joint contractures are characteristic....

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PMID: 24988964

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24988964-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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