Case Reports
doi: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6.
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
Affiliations
- PMID: 10360771
- DOI: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6
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Case Reports
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
Ann Neurol.
1999 Jun.
Abstract
Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.
Comment in
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Mitochondrial encephalomyopathies: back to Mendelian genetics.Ann Neurol. 1999 Jun;45(6):693-4. doi: 10.1002/1531-8249(199906)45:6<693::aid-ana2>3.0.co;2-#. Ann Neurol. 1999. PMID: 10360760 No abstract available.
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