MOLECULAR-GENETIC CHARACTERIZATION OF AN X-LINKED FORM OF LEIGHS SYNDROME

被引：59

作者：

MATTHEWS, PM

MARCHINGTON, DR

SQUIER, M

LAND, J

BROWN, RM

BROWN, GK

机构：

[1] UNIV OXFORD,DEPT BIOCHEM,GENET LAB,S PARKS RD,OXFORD OX1 3QU,ENGLAND

[2] UNIV OXFORD,DEPT CLIN NEUROL,OXFORD OX1 3QU,ENGLAND

[3] RADCLIFFE INFIRM,DEPT NEUROPATHOL,OXFORD OX2 6HE,ENGLAND

[4] JOHN RADCLIFFE HOSP,DEPT CLIN BIOCHEM,OXFORD OX3 9DU,ENGLAND

来源：

ANNALS OF NEUROLOGY | 1993年 / 33卷 / 06期

关键词：

D O I：

10.1002/ana.410330616

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a patient with necrotizing encephalomyelopathy (Leigh's syndrome) associated with a deficiency of pyruvate dehydrogenase complex activity. The underlying mutation is an A to C transversion in the pyruvate dehydrogenase complex E1alpha subunit gene. As the E1alpha subunit is encoded on the X chromosome, this observation confirms that some patients with Leigh's syndrome may potentially exhibit X-linked inheritance.

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页码：652 / 655

页数：4

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