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Article

Clinical and genetic heterogeneity in laminopathies.

Biochemical Society transactions - 1 Dec 2011

Bertrand Anne T, Chikhaoui Khadija, Yaou Rabah Ben, Bonne Gisèle

Abstract excerpt

Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed. Associated with this wide clinical variability, there is also a large genetic heterogeneity, with 408...

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Source

Identifiers

PMID: 22103508
DOI: 10.1042/BST20110670

Genes

LMNA

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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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