Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
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.
van der Kooi
A J
AJ
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. a.j.kooi@amc.uva.nl
Bonne
G
G
Eymard
B
B
Duboc
D
D
Talim
B
B
Van der Valk
M
M
Reiss
P
P
Richard
P
P
Demay
L
L
Merlini
L
L
Schwartz
K
K
Busch
H F M
HF
de Visser
M
M
D000328:Adult; D001281:Atrial Fibrillation / Q000150:complications / Q000235:genetics*; D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004562:Electrocardiography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D034904:Lamin Type A; D034882:Lamins; D008060:Lipodystrophy / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D034904:Lamin Type A; D034882:Lamins; D009687:Nuclear Proteins