A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

被引：33

作者：

Santoro, L

Carrozzo, R

Malandrini, A

Piemonte, F

Patrono, C

Villanova, M

Tessa, A

Palmeri, S

Bertini, E

Santorelli, FM

机构：

[1] IRCCS, Childrens Hosp Bambino Gesu, Dept Neurosci, I-00165 Rome, Italy

[2] Univ Naples Federico II, Dept Neurophysiopathol, Naples, Italy

[3] Univ Siena, Inst Neurol, I-53100 Siena, Italy

[4] IRCCS, Ist Ortoped Rizzoli, Lab Neuromuscular Pathol, Bologna, Italy

来源：

NEUROMUSCULAR DISORDERS | 2000年 / 10卷 / 06期

关键词：

Leigh syndrome; peripheral neuropathy; cytochrome c oxidase deficiency;

D O I：

10.1016/S0960-8966(99)00122-4

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 5-year-old boy with clinical and neuroradiological evidence of Leigh syndrome and peripheral neuropathy. Skeletal muscle biopsy showed decreased cytochrome c oxidase stain. Ultrastructurally, the nerve biopsy showed a defect of myelination. Biochemical analyses of muscle homogenate showed cytochrome c oxidase deficiency (15% residual activity). SURF1 gene analysis identified a never homozygous nonsense mutation which predicts a truncated surf1 protein. (C) 2000 Elsevier Science B.V. All rights reserved.

引用

页码：450 / 453

页数：4

共 13 条

[1] Genetic heterogeneity in Leigh syndrome [J].