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Article

[Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2016

Dadali E L, Sharkova I V, Adyan T A, Milovidova T B, Polakov А V

Abstract excerpt

OBJECTIVE: To study clinical/genetic characteristics of congenital muscular dystrophy caused by mutations in the LMNA gene in 5 patients from the Russian population. MATERIAL AND METHODS: DNA samples of 42 probands, aged from 2 months to 9 years, with characteristic signs of congenital muscular dystrophy from nonrelated families were studied. The diagnosis was based on the results of genealogical analysis,...

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Source

Identifiers

PMID: 26977629
DOI: 10.17116/jnevro20161161170-75

Genes

LMNA

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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