Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
نویسندگان
چکیده
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.
منابع مشابه
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
BACKGROUND Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families. OBJECTIVE To describe a Spanish family with LS, complex I deficiency in muscle, and a novel mutation in the NDUFS1 gene. DESIGN Using molecular genetic approaches, we id...
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ورودعنوان ژورنال:
- Annals of neurology
دوره 45 6 شماره
صفحات -
تاریخ انتشار 1999