Phenotypic Differences Between T → C and T → G Mutations at nt 8993 of Mitochondrial DNA in Leigh Syndrome
- 31 March 1998
- journal article
- case report
- Published by Elsevier in Pediatric Neurology
- Vol. 18 (3) , 275-277
- https://doi.org/10.1016/s0887-8994(97)00187-2
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
- Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point MutationPediatric Research, 1996
- Leigh syndrome: Clinical features and biochemical and DNA abnormalitiesAnnals of Neurology, 1996
- Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiencyNature Genetics, 1995
- A T → C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndromeNeurology, 1994
- The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeAnnals of Neurology, 1993
- A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndromeAnnals of Neurology, 1993
- Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndromeThe Journal of Pediatrics, 1990
- BIOCHEMICAL ABNORMALITIES IN LEIGH'S DISEASEThe Lancet, 1976