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Article

Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5.

Muscle & nerve - 1 May 2011

Carboni Nicola, Floris Matteo, Mateddu Anna, Porcu Maurizio, Marrosu Giovanni, Solla Elisabetta, Cocco Eleonora, Mura Marco, Marini Stefano, Maioli Maria A, Piras Rachele, Aste Rinaldo, Marrosu Maria G

Abstract excerpt

INTRODUCTION: Familial dilated cardiomyopathy with conduction system defects variably associated with skeletal muscle abnormalities is frequently caused by LMNA gene mutations. METHODS: A family affected by cardiac abnormalities, either isolated or variably associated with skeletal muscle compromise, was identified. LMNA gene analysis was applied to all family members. RESULTS: A novel intron 5 (c.937-11 C > G)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21462202
DOI: 10.1002/mus.21937

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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