Intracellular Mitochondrial Triplasmy in a Patient with Two Heteroplasmic Base Changes
- 1 June 1997
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 60 (6) , 1430-1438
- https://doi.org/10.1086/515460
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapyHuman Molecular Genetics, 1996
- Mammalian Mitochondria Possess Homologous DNA Recombination ActivityJournal of Biological Chemistry, 1996
- Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNANature Genetics, 1996
- MELAS‐ and kearns‐sayre‐type with myopathy and autoimmune polyendocrinopahyAnnals of Neurology, 1996
- Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus.Journal of Medical Genetics, 1996
- Multiple independent occurrence of the 3243 mutation in mitochondrial tRNAleuUUR in patients with the MELAS phenotypeHuman Molecular Genetics, 1995
- Biochemical and Molecular Studies of Mitochondrial Function in Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and DeafnessDiabetes Care, 1994
- A tandem duplication in the D–loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathiesNature Genetics, 1993
- Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applicationsAnnals of Neurology, 1993
- Sequence and organization of the human mitochondrial genomeNature, 1981