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Article

Laminopathies in Russian families.

Clinical genetics - 1 Aug 2008

Rudenskaya G E, Polyakov A V, Tverskaya S M, Zaklyazminskaya E V, Chukhrova A L, Groznova O E, Ginter E K

Abstract excerpt

Mutations in LMNA gene produce a wide spectrum of disorders called laminopathies. In this article, the first cases of laminopathies from Russia are reported. In 10 unrelated families, 9 different mutations were identified: Asp47His, Gly232Arg, c.[781_783delAAG, 781insGTGGAGCAGTATAAGAAA], Arg249Gln (in two families), Arg377His, Arg541His, Ala350Pro, Leu52Pro, and Gly635Asp. Mutations Arg249Gln, Arg377His, and...

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Share to Cardiomyopathy, Dilated
Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Lamin Type A

Share to Muscular Dystrophies, Limb-Girdle

Share to Muscular Dystrophy, Emery-Dreifuss

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Source

Identifiers

PMID: 18564364
DOI: 10.1111/j.1399-0004.2008.01045.x

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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