A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

HIGHLIGHTS

  • who: Vial-Brizzi and collaborators from the Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle University of Freiburg, Freiburg, Germany have published the article: A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies, in the Journal: (JOURNAL) of January/15,/2018
  • what: The authors report a patient with mitochondrial myopathy due to a homozygous mutation in MID49 (MIEF2, SMCR7) with combined respiratory_chain enzyme defect and augmented mitochondrial fusion in the patient s skeletal muscle and fibroblasts. | 1187 | Human Molecular Genetics, 2018, Vol. The authors detected reduced activities . . .

     

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