Getting to the Nucleus of Mitochondrial Disorders: Identification of Respiratory Chain–Enzyme Genes Causing Leigh Syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference19 articles.
1. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome;Adams;Ann Neurol,1997
2. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency;Bourgeron;Nat Genet,1995
3. Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome;Brown;J Inherit Metab Dis,1996
4. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996
5. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nulear-encoded mitochondrial metaloprotease;Casari;Cell,1998
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2. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases;Orphanet Journal of Rare Diseases;2021-10-09
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4. Association of a point mutation (m.9176T>G) of the MT-ATP6 gene with Leigh syndrome: A case report;Biomedical Research and Therapy;2020-05-25
5. A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations;Medicine;2020-01
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