Mitochondrial encephalomyopathy.
Mitochondrial encephalomyopathy is a disease based on multisystemic mitochondrial dysfunction. Pathologic, biochemical and molecular genetic approaches to the disease have revealed the complex features of the phenotype and its relationship to the genotype. Last decade's great success of the mtDNA study must move research of the disease into the next phase.
Goto
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Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. goto@ncnp.go.jp
D004272:DNA, Mitochondrial / Q000502:physiology; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D017354:Point Mutation / Q000502:physiology
D004272:DNA, Mitochondrial