Homoplasmic Mitochondrial DNA Diseases as the Paradigm to Understand the Tissue Specificity and Variable Clinical Severity of Mitochondrial Disorders
- 1 September 2000
- journal article
- review article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 71 (1-2) , 93-99
- https://doi.org/10.1006/mgme.2000.3014
Abstract
No abstract availableThis publication has 35 references indexed in Scilit:
- Mitochondrial deafness mutations reviewedHuman Mutation, 1999
- Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndromeThe Journal of Pediatrics, 1993
- Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessNature Genetics, 1993
- Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafnessNature Genetics, 1992
- DISEASES OF THE MITOCHONDRIAL DNAAnnual Review of Biochemistry, 1992
- The Clinical Characteristics of Pedigrees of Leber's Hereditary Optic Neuropathy With the 11778 MutationAmerican Journal of Ophthalmology, 1991
- A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesNature, 1990
- Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 1990
- Biogenesis of MitochondriaAnnual Review of Cell Biology, 1988
- Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathiesNature, 1988