Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease

被引：52

作者：

Howell, N

Kubacka, I

Smith, R

Frerman, F

Parks, JK

Parker, WD

机构：

[1] UNIV TEXAS,MED BRANCH,DEPT HUMAN BIOL,GALVESTON,TX 77555

[2] UNIV COLORADO,SCH MED,DEPT NEUROL,DENVER,CO

[3] UNIV COLORADO,SCH MED,DEPT PEDIAT,DENVER,CO

[4] UNIV VIRGINIA,SCH MED,DEPT NEUROL,CHARLOTTESVILLE,VA 22908

[5] UNIV VIRGINIA,SCH MED,DEPT PEDIAT,CHARLOTTESVILLE,VA 22908

来源：

NEUROLOGY | 1996年 / 46卷 / 01期

关键词：

D O I：

10.1212/WNL.46.1.219

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report previously undescribed or atypical clinical and biochemical manifestations of the mitochondrial DNA MERRF mutation at nucleotide 8344 in members of a multigenerational family with a maternally inherited, highly variable neurodegenerative disorder. The more profound neurologic abnormalities include Leigh disease, spinocerebellar degeneration, and atypical Charcot-Marie-Tooth disease.

引用

页码：219 / 222

页数：4

共 16 条

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