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

被引：100

作者：

van der Kooi, AJ

Bonne, G

Eymard, B

Duboc, D

Talim, B

Van der Valk, M

Reiss, P

Richard, P

Demay, L

Merlini, L

Schwartz, K

Busch, HFM

de Visser, M

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DE Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Natl AIDS Therapy Evaluat Ctr, NL-1100 DE Amsterdam, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Dept Infect Dis Trop Med & AIDS, NL-1100 DE Amsterdam, Netherlands

[4] Acad Hosp Rotterdam Dijkzigt, Dept Neurol, Rotterdam, Netherlands

[5] GH Pitie Salpetriere, INSERM, UR523, Paris, France

[6] GH Pitie Salpetriere, Inst Mycol, IFR Coeur Muscli Vaisseaux 14, Paris, France

[7] GH Pitie Salpetriere, Serv Biochim B, Paris, France

[8] GH Cochin, Serv Cardiol, Paris, France

[9] Ist Ortoped Rizzoli, Neuromuscular Unit, Bologna, Italy

来源：

NEUROLOGY | 2002年 / 59卷 / 04期

关键词：

D O I：

10.1212/WNL.59.4.620

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：620 / 623

页数：4

共 11 条

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