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J Inherit Metab Dis. 2001 Apr;24(2):181-8.

Clinical and molecular studies of mitochondrial disease.

Author information

  • 1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. goto@ncnp.gp.jp

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.

PMID:
11405339
[PubMed - indexed for MEDLINE]
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