Authors
AJ 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, HFM Busch, M De Visser
Publication date
2002/8/27
Journal
Neurology
Volume
59
Issue
4
Pages
620-623
Publisher
Lippincott Williams & Wilkins
Description
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.
Total citations
Scholar articles
AJ Van der Kooi, G Bonne, B Eymard, D Duboc… - Neurology, 2002