Guerrero A, Castro M, Martín-Estefanía C
Servicio de Neurología, Hospital Universitario San Carlos, Madrid, España.
Rev Neurol. 1998 Apr;26 Suppl 1:S50-60.
Mitochondrial disorders are multisystemic diseases with very heterogeneous clinical manifestations. A same genetic mutation can result in distinctive clinical phenotypes and, on the other hand, distinct mutations can result in the same clinical phenotype. This article review the manifestations of the diverse clinical syndromes, their relationship with the molecular defects, and the diagnostic protocol in the investigation of a suspected mitochondrial disorder.
线粒体疾病是具有非常异质性临床表现的多系统疾病。同一基因突变可导致不同的临床表型，另一方面，不同的突变也可导致相同的临床表型。本文综述了各种临床综合征的表现、它们与分子缺陷的关系以及疑似线粒体疾病调查中的诊断方案。
