Clinical and molecular findings in children with complex I deficiency
- 25 September 2004
- journal article
- review article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Bioenergetics
- Vol. 1659 (2-3) , 136-147
- https://doi.org/10.1016/j.bbabio.2004.09.006
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 geneAnnals of Neurology, 2003
- An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndromeEuropean Journal of Human Genetics, 2001
- Biochemical features of mtDNA 14484 (ND6/m64V) point mutation associated with Leber's hereditary optic neuropathyAnnals of Neurology, 1999
- Maternal inheritance and the evaluation of oxidative phosphorylation diseasesThe Lancet, 1996
- NADH‐coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findingsJournal of Inherited Metabolic Disease, 1996
- Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) geneHuman Molecular Genetics, 1995
- Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathyFEBS Letters, 1994
- Requirement of histidine 217 for ubiquinone reductase activity (Qi site) in the cytochrome bc1 complexBiochemistry, 1994
- Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsiesBiochimica et Biophysica Acta (BBA) - Bioenergetics, 1990
- Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic NeuropathyScience, 1988