[Clinical aspects of mitochondrial diseases].
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.
Guerrero
A
A
Servicio de Neurología, Hospital Universitario San Carlos, Madrid, España.
Castro
M
M
Martín-Estefanía
C
C
D004272:DNA, Mitochondrial / Q000235:genetics; D003576:Electron Transport Complex IV / Q000378:metabolism; D006801:Humans; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D009097:Multienzyme Complexes / Q000235:genetics
D004272:DNA, Mitochondrial; D009097:Multienzyme Complexes; D003576:Electron Transport Complex IV