Mitochondrial encephalomyopathies

被引：10

作者：

Castro-Gago, M

Novo-Rodríguez, MI

Pintos-Martíez, E

Campos, Y

Arenas, J

Eirís-Puñal, J

机构：

[1] Complejo Hosp Univ, SERGAS, Hosp Clin Univ, Serv Anat Patol, Santiago De Compostela, Spain

[2] Hosp 12 Octubre, Ctr Invest, E-28041 Madrid, Spain

来源：

REVISTA DE NEUROLOGIA | 2000年 / 31卷 / 03期

关键词：

adolescence; childhood; lactic acid; mitochondrial encephalomyopathies; mitochondrial genetic; ragged-red fibers;

D O I：

10.33588/rn.3103.2000074

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective. We carry out a review of the current basic genetic, biochemical, clinical, diagnostic and therapeutic aspects of mitochondrial cytopathies due to deficiencies in the mitochondrial respiratory chain complexes, which appear clinically during childhood and/or adolescence. Development. The clinical description has been divined into two groups: mitochondrial cytopathies secondary to alterations of mitochondrial DNA (mtDNA) and mitochondrial cytopathies secondary to alterations of the nuclear DNA (nDNA); we also consider about the importance of such conditions at this age.

引用

页码：263 / 282

页数：20

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