Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation

被引：61

作者：

Schuelke, M

Krude, H

Finckh, B

Mayatepek, E

Janssen, A

Schmelz, M

Trefz, F

Trijbels, F

Smeitink, J

机构：

[1] Charite, Dept Neuropediat, D-13353 Berlin, Germany

[2] Charite, Dept Pediat Endocrinol, D-13353 Berlin, Germany

[3] Univ Hamburg, Childrens Hosp, Hamburg, Germany

[4] Heidelberg Univ, Childrens Hosp, Div Metab & Endocrine Dis, D-6900 Heidelberg, Germany

[5] Diagnost Ctr Metab Dis, Reutlingen, Germany

[6] Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, Nijmegen, Netherlands

来源：

ANNALS OF NEUROLOGY | 2002年 / 51卷 / 03期

关键词：

D O I：

10.1002/ana.10151

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report on a 25-year-old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. He suffered from septo-optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. Low et-tocopherol concentrations in his muscles and an elevated urinary leukotriene E-4 excretion indicate increased production of reactive oxygen species.

引用

页码：388 / 392

页数：5

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[21] CEREBRAL DYSGENESIS AND LACTIC ACIDEMIA - AN MRI/MRS PHENOTYPE ASSOCIATED WITH PYRUVATE-DEHYDROGENASE DEFICIENCY [J].