RT Journal Article
SR Electronic
T1 Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 620
OP 623
DO 10.1212/WNL.59.4.620
VO 59
IS 4
A1 van der Kooi, A. J.
A1 Bonne, G.
A1 Eymard, B.
A1 Duboc, D.
A1 Talim, B.
A1 Van der Valk, M.
A1 Reiss, P.
A1 Richard, P.
A1 Demay, L.
A1 Merlini, L.
A1 Schwartz, K.
A1 Busch, H. F.M.
A1 de Visser, M.
YR 2002
UL http://n.neurology.org/content/59/4/620.abstract
AB 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.