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Consequences of Lmna Exon 4 Mutations in Myoblast Function.

Cells - 21 May 2020

Gómez-Domínguez Déborah, Epifano Carolina, Miguel Fernando de, Castaño Albert García, Vilaplana-Martí Borja, Martín Alberto, Amarilla-Quintana Sandra, Bertrand Anne T, Bonne Gisèle, Ramón-Azcón Javier, Rodríguez-Milla Miguel A, Pérez de Castro Ignacio

Abstract excerpt

Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients. These mutations are widely distributed throughout the entire gene and are associated with a wide range of phenotypes. Unfortunately, little is known about the mechanisms underlying the effect of the majority of these mutations. This is the case of more than 40...

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Identifiers

PMID: 32455813
DOI: 10.3390/cells9051286
PMCID: PMC7291140

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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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