Cardiac and respiratory failure in limb-girdle muscular dystrophy 21

被引：78

作者：

Poppe, M

Bourke, J

Eagle, M

Frosk, P

Wrogemann, K

Greenberg, C

Muntoni, F

Voit, T

Straub, V

Hilton-Jones, D

Shirodaria, C

Bushby, K

机构：

[1] Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

[2] Newcastle Univ, Dept Cardiol, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

[3] Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB R3T 2N2, Canada

[4] Univ Manitoba, Dept Pediat, Winnipeg, MB R3T 2N2, Canada

[5] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Dept Paediat, London, England

[6] Univ Hosp Essen, Dept Pediat & Paediat Neurol, Essen, Germany

[7] Radcliffe Infirm, Dept Clin Neurol, Oxford, England

[8] Radcliffe Infirm, Dept Cardiol, Oxford, England

[9] John Radcliffe Hosp, Oxford OX3 9DU, England

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 05期

关键词：

D O I：

10.1002/ana.20283

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 gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure. Heterozygotes for the common C826A mutation developed cardiac involvement earlier than homozygotes. All patients initially improved while receiving standard therapy. Independent of cardiac status, forced vital capacity was below 75% in 44.4% of the patients. There was no absolute correlation between skeletal muscle weakness and cardiomyopathy or respiratory insufficiency. These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management.

引用

页码：738 / 741

页数：4

共 14 条

[1] Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C [J].