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Article

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.

Journal of applied genetics - 1 Feb 2017

Madej-Pilarczyk Agnieszka, Niezgoda Adam, Janus Magdalena, Wojnicz Romuald, Marchel Michał, Fidziańska Anna, Grajek Stefan, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNA gene was found. The patient presented with overlapping syndrome of heart...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27585670
DOI: 10.1007/s13353-016-0365-2
PMCID: PMC5243892

Genes

LMNA

Variants

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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