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Results 1 - 4 of 4 for Abnormal activity of mitochondrial respiratory chain
  1. Hereditary paraganglioma-pheochromocytoma 
    ... result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov;201(3): ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  2. Mitochondrial complex V deficiency 
    ... Brandt U, Nijtmans L. The Assembly Pathway of Mitochondrial Respiratory Chain Complex I. Cell Metab. 2017 Jan 10;25(1):128-139. doi: 10.1016/j.cmet.2016.09.002. Epub 2016 Oct 6. Citation on PubMed ... genetic defects of mitochondrial ATP synthase. Physiol Res. 2014;63(Suppl 1): ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  3. Deoxyguanosine kinase deficiency 
    ... Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab. ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  4. Carnitine palmitoyltransferase II deficiency 
    ... enter mitochondria. Once these fatty acids are inside mitochondria, ... the activity of carnitine palmitoyltransferase 2. Without enough of this ...
    https://medlineplus.gov/...nitine-palmitoyltransferase-ii-deficiency - Genetics