MITOCHONDRIAL ENCEPHALOMYOPATHIES WITH CYTOCHROME C OXIDASE DEFICIENCY: ROLE OF NUCLEAR GENES

Scientific Publications

• 2002 ARCHIVES OF NEUROLOGY

  Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA

• 2002 BIOCHEMICAL JOURNAL

  Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations

• 2002 ARCHIVES OF NEUROLOGY

  Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

• 2002 NEUROMUSCULAR DISORDERS

  Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA

• 2003 PEDIATRIC RESEARCH

  Mutation screening in patients with isolated cytochrome c oxidase deficiency

• 2002 NEUROLOGY

  Mitochondrial DNA depletion - Mutations in thymidine kinase gene with myopathy and SMA

• 2002 ANNALS OF NEUROLOGY

  Mitochondrial DNA depletion and dGK gene mutations