MITOCHONDRIAL DYSFUNCTION IN RETT-SYNDROME - AN ULTRASTRUCTURAL AND BIOCHEMICAL-STUDY

被引：59

作者：

DOTTI, MT ^{[1
]}

MANNESCHI, L ^{[1
]}

MALANDRINI, A ^{[1
]}

DESTEFANO, N ^{[1
]}

CAZNERALE, F ^{[1
]}

FEDERICO, A ^{[1
]}

机构：

[1] UNIV SIENA,INST NEUROL SCI,I-53100 SIENA,ITALY

来源：

BRAIN & DEVELOPMENT | 1993年 / 15卷 / 02期

关键词：

RETT SYNDROME; MITOCHONDRION; MITOCHONDRIAL ENZYME; MUSCLE BIOPSY;

D O I：

10.1016/0387-7604(93)90045-A

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report the ultrastructural and biochemical alterations of muscle mitochondria in two girls with Rett syndrome. Our findings suggest the presence of an energy metabolism impairment the primary or secondary role of which in the pathogenesis of this syndrome cannot be defined at present.

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收藏

页码：103 / 106

页数：4

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