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

Author： 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.  

Publisher： Oxford University Press

ISSN： 1460-2083

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

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