Article
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Mitochondrion - 1 Jan 2011
Cameron Jessie M, Levandovskiy Valeriy, Mackay Nevena, Ackerley Cameron, Chitayat David, Raiman Julian, Halliday W H, Schulze Andreas, Robinson Brian H
Abstract excerpt
Mutations in the TMEM70 gene are responsible for a familial form of complex V deficiency presenting with 3-methylglutaconic aciduria, lactic acidosis, cardiomyopathy and mitochondrial myopathy. Here we present a case of TMEM70 deficiency due to compound heterozygous mutations, who displayed abnormal mitochondria with whorled cristae in muscle. Immunogold electron microscopy and tomography shows for the first time...
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