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Article

A family with 2 different hereditary diseases leading to early cardiac involvement.

Journal of clinical neuromuscular disease - 1 Jun 2013

Nzwalo Hipólito, Conceição Isabel, Pereira Pedro, Santos Rosário, Evangelista Teresinha

Abstract excerpt

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD 1B) is caused by mutations in the LMNA gene. The disorder is associated with potentially fatal cardiac arrhythmias. Brugada syndrome (BS) is an autosomal dominant channelopathy linked to mutations in the SCN5A gene. BS is also associated with increased risk of sudden cardiac death. We reported a family in which a novel gene mutation, a missense...

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Share to Brugada Syndrome
Share to Death, Sudden, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

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Share to LMNA gene

Share to Lamin Type A

Share to Muscular Dystrophies, Limb-Girdle

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Source

Identifiers

PMID: 23703017
DOI: 10.1097/CND.0b013e31829082c3

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A family with 2 different hereditary diseases leading to early cardiac involvement.PMID 23703017Read ↗

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