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Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

Mercuri, E; Brown, SC; Nihoyannopoulos, P; Poulton, J; Kinali, M; Richard, P; Piercy, RJ; ... Muntoni, F; + view all (2005) Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. MUSCLE NERVE , 31 (5) 602 - 609. 10.1002/mus.20293.

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Abstract

Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular dystrophy and to limb-girdle muscular dystrophy 1 B (EDMD and LGMD1B). With one exception, all the reported EDMD and LGMD1B mutations are confined to the first 10 exons of the gene. We report four separate cases, with mutations in the same codon of LMNA exon 11, characterized by remarkable variability of clinical findings, in addition to features not previously reported. One patient had congenital weakness and died in early childhood. In two other patients, severe cardiac problems arose early and, in one of these, cardiac signs preceded by many years the onset of skeletal muscle weakness. The fourth case had a mild and late-onset LGMD1B phenotype. Our cases further expand the clinical spectrum associated with mutations in the LMNA gene and provide new evidence of the role played by the C-terminal domain of lamin A.

Type: Article
Title: Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
DOI: 10.1002/mus.20293
Keywords: cardiomyopathy, lamin A/C, muscular dystrophy, phenotype variability, DREIFUSS MUSCULAR-DYSTROPHY, HUTCHINSON-GILFORD PROGERIA, C-TERMINAL DOMAIN, PARTIAL LIPODYSTROPHY, MISSENSE MUTATIONS, DILATED CARDIOMYOPATHY, CONDUCTION-SYSTEM, NUCLEAR LAMIN, LMNA, IDENTIFICATION
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/146613
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