title: Clinical and molecular studies of mitochondrial disease.
abstract: Our knowledge of mitochondrial disorders has expanded enormously through advances in mitochondrial DNA (mtDNA) research during the last decade. This has also provided information about the complicated genotype-phenotype relationship based on distinct characteristics of mtDNA itself. These include multicopy, vulnerability to the mutation, and cytoplasmic inheritance. There are complications of heteroplasmy, tissue/cell specificity, accumulation of mutations and material inheritance.
authors.affiliation: Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. goto@ncnp.gp.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
mesh_terms: D000818:Animals; D006801:Humans; D008928:Mitochondria / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D010641:Phenotype