G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients

Author:

Mani Shalini,Rao S. Narasimha,Kumar M.V. Kranthi

Funder

CSIR

CCMB

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference35 articles.

1. Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high;Tatuch;Am. J. Hum. Genet.,1992

2. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex;Chun;Am. J. Hum. Genet.,1995

3. Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh’s syndrome: genetic evidence based on patient’s-derived rho transformants;Tiranti;Hum. Mol. Genet.,1995

4. Leigh syndrome: clinical features and biochemical and DNA abnormalities;Rahman;Ann. Neurol.,1996

5. Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect;Robinson;Biochim. Biophys. Acta,1998

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