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- W2038252893 abstract "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 that nucleoid clusters of mtDNA are disrupted in the abnormal mitochondria, with both nucleoids and mitochondrial respiratory chain complexes confined to the outer rings of the whorls. This could explain the differential effects on the expression and assembly of complex V in different tissues." @default.
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- W2038252893 date "2011-01-01" @default.
- W2038252893 modified "2023-10-18" @default.
- W2038252893 title "Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization" @default.
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- W2038252893 doi "https://doi.org/10.1016/j.mito.2010.09.008" @default.
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