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

Access to resources Recommend Favorite

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

By Yao Jianbo   Shoubridge Eric A.  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2541-2549

Oxford University Press

Access to resources Recommend Favorite

Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast

By Reinhold Robert   Bareth Bettina   Balleininger Martina   Wissel Mirjam   Rehling Peter   Mick David U.  

Human Molecular Genetics, Vol. 20, Iss. 12, 2011-06 ,pp. : 2379-2393

Oxford University Press

Access to resources Recommend Favorite

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

By Jaksch Michaela  

Human Molecular Genetics, Vol. 9, Iss. 5, 2000-03 ,pp. : 795-801

Oxford University Press

Access to resources Recommend Favorite

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

By Yu-Wai-Man Patrick   Sitarz Kamil S.   Samuels David C.   Griffiths Philip G.   Reeve Amy K.   Bindoff Laurence A.   Horvath Rita   Chinnery Patrick F.  

Human Molecular Genetics, Vol. 19, Iss. 15, 2010-08 ,pp. : 3043-3052

Oxford University Press

Access to resources Recommend Favorite