[The other genome: the clinical concept of mitochondrial cytopathies or disorders of pxidative phosphorylation].
The investigations of mitochondrial DNA abnormalities and its relationship with derangements of oxidative phosphorylation and electron transport system, has yielded description a myriad of syndromes called mitochondrial diseases or cytopathies. The objective of this paper is to review the clinical relevant features of this heterogeneous group of diseases, to understand the board spectrum of signs and symptoms and suggest an algorithm for the diagnosis.
Instituto Nacional de Cardiología I gnacio Chávez, México D.F.
C F
CF
Barrera-Ramírez
H M
HM
Barragán-Campos
J
J
Sánchez-Guerrero
G
G
García-Ramos
F
F
Vega-Boada
B
B
Estañol
D009202:Cardiomyopathies / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D005111:Extrachromosomal Inheritance; D005260:Female; D016678:Genome; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D010085:Oxidative Phosphorylation; D010641:Phenotype; D019289:Pyruvic Acid / Q000097:blood
D004272:DNA, Mitochondrial; D019344:Lactic Acid; D019289:Pyruvic Acid
El otro genoma: el concepto clínico de las citopatías mitocondriales o enfermedades de la fosforilación oxidativa.