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Article

[Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2012

Ryzhkova O P, Sharkova I V, Dadali E L, Petrunina E L, Poliakov A V

Abstract excerpt

Seventy four patients with clinical presentation of LGMD and probably autosomal-recessive type of inheritance were examined. Five different mutations of FKRP gene responsible for LGMD2 type I were detected in eight (10.8%) patients. Two of them с.341C>G, c.826C>A were described before and three c...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Dystrophies, Limb-Girdle

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Source

Identifiers

PMID: 22983245

Genes

FKRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22983245-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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