Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

A J van der Kooi; G Bonne; B Eymard; D Duboc; B Talim; M Van der Valk; P Reiss; P Richard; L Demay; L Merlini; K Schwartz; H F M Busch; M de Visser

doi:10.1212/wnl.59.4.620

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

Neurology. 2002 Aug 27;59(4):620-3. doi: 10.1212/wnl.59.4.620.

Authors

A J van der Kooi¹, G Bonne, B Eymard, D Duboc, B Talim, M Van der Valk, P Reiss, P Richard, L Demay, L Merlini, K Schwartz, H F M Busch, M de Visser

Affiliation

¹ Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. a.j.kooi@amc.uva.nl

PMID: 12196663
DOI: 10.1212/wnl.59.4.620

Abstract

Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Atrial Fibrillation / complications
Atrial Fibrillation / genetics*
Cardiomyopathies / complications
Cardiomyopathies / diagnosis
Cardiomyopathies / genetics*
Electrocardiography
Fatal Outcome
Female
Humans
Lamin Type A
Lamins
Lipodystrophy / complications
Lipodystrophy / diagnosis
Lipodystrophy / genetics*
Muscular Dystrophies / complications
Muscular Dystrophies / diagnosis
Muscular Dystrophies / genetics*
Mutation, Missense / genetics
Nuclear Proteins / genetics*
Tomography, X-Ray Computed

Substances

Lamin Type A
Lamins
Nuclear Proteins