A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

By Szklarczyk Radek   Wanschers Bas F. J.   Nijtmans Leo G.   Rodenburg Richard J.   Zschocke Johannes   Dikow Nicola   van den Brand Mariël A. M.   Hendriks-Franssen Marthe G. M.   Gilissen Christian   Veltman Joris A.   Nooteboom Marco   Koopman Werner J. H.   Willems Peter H.G.M.   Smeitink Jan A. M.   Huynen Martijn A.   van den Heuvel Lambertus P.  

Human Molecular Genetics, Vol. 22, Iss. 4, 2013-02 ,pp. : 656-667

Oxford University Press

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Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency

By Diaz Francisca  

Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2737-2748

Oxford University Press

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Intragenic deletion in the gene encoding L-gulonolactone oxidase causes vitamin C deficiency in pigs

By Hasan Lara  

Mammalian Genome, Vol. 15, Iss. 4, 2004-04 ,pp. : 323-333

Springer Publishing Company

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A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

By Tiranti Valeria   Corona Paola   Greco Marilena   Taanman Jan-Willem  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2733-2742

Oxford University Press

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Cytochrome c oxidase deficiency due to mutations in SCO2 , encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

By Jaksch Michaela  

Human Molecular Genetics, Vol. 10, Iss. 26, 2001-12 ,pp. : 3025-3035

Oxford University Press

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