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Article

New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

Gene - 31 Dec 2016

Rogozhina Y, Mironovich S, Shestak A, Adyan T, Polyakov A, Podolyak D, Bakulina A, Dzemeshkevich S, Zaklyazminskaya E

Abstract excerpt

BACKGROUND: Most of mutations in the LMNA gene are unique and have been found in only a few unrelated families. The clinical interpretation of new genetic variants, especially beyond the coding area and canonical splice sites, is proving to be difficult and requires advanced investigation. METHODS: This study included patients with progressive cardiac conduction defects with neuromuscular involvement. The...

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Share to Brugada Syndrome
Share to Cardiac Conduction System Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Creatine Kinase

Share to Introns

Share to Lamin Type A

Share to Muscular Dystrophies, Limb-Girdle

Share to RNA Splice Sites

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Source

Identifiers

PMID: 27717888
DOI: 10.1016/j.gene.2016.10.001

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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