Title: Clinical and molecular studies of mitochondrial disease
Abstract: 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.
Publication Year: 2001
Publication Date: 2001-04-01
Language: en
Type: review
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 13
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