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Article

[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2010

Dadali E L, Shagina O A, Ryzhkova O P, Rudenskaia G E, Fedotov V P, Poliakov A V

Abstract excerpt

We present the results of the molecular genetic study of 26 patients, aged from 12 to 60 years, from 24 unrelated families with limb girdle-muscular dystrophy (LGMD) type 2A. The disease duration varied from 6 months to 30 years. The diagnosis of LGMD 2capital A, Cyrillic was confirmed by molecular genetic methods basing on the presence of a CAPN3 mutation in homozygous, compound-heterozygous and heterozygous...

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Source

Identifiers

PMID: 20517216

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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