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@ARTICLE{Klopstock:163395,
      author       = {Klopstock, Thomas and Priglinger, Claudia and Yilmaz, Ali
                      and Kornblum, Cornelia and Distelmaier, Felix and Prokisch,
                      Holger},
      title        = {{M}itochondrial {D}isorders.},
      journal      = {Deutsches Ärzteblatt international},
      volume       = {118},
      number       = {44},
      issn         = {1866-0452},
      address      = {Köln},
      publisher    = {Dt. Ärzte-Verl.},
      reportid     = {DZNE-2022-00157},
      pages        = {741-748},
      year         = {2021},
      abstract     = {Mitochondrial disorders are among the most common heritable
                      diseases, with an overall lifetime risk of approximately one
                      in 1500. Nonetheless, their diagnosis is often missed
                      because of their extreme phenotypic and genotypic
                      heterogeneity.This review is based on publications retrieved
                      by a selective literature search on the clinical features,
                      genetics, pathogenesis, diagnosis, and treatment of
                      mitochondrial diseases.Pathogenic defects of energy
                      metabolism have been described to date in over 400 genes.
                      Only a small number of these genes lie in the mitochondrial
                      DNA; the corresponding diseases are either maternally
                      inherited or of sporadic distribution. The remaining
                      disease-associated genes are coded in nuclear DNA and cause
                      diseases that are inherited according to Mendelian rules,
                      mostly autosomal recessive. The most severely involved
                      organs are generally those with the highest energy
                      requirements, including the brain, the sensory epithelia,
                      and the extraocular, cardiac, and skeletal musculature.
                      Typical manifestations include epileptic seizures,
                      stroke-like episodes, hearing loss, retinopathy, external
                      ophthalmoparesis, exercise intolerance, and diabetes
                      mellitus. More than two manifestations of these types should
                      arouse suspicion of a disease of energy metabolism. The
                      severity of mitochondrial disorders ranges from very severe
                      disease, already evident in childhood, to relatively mild
                      disease arising in late adulthood. The diagnosis is usually
                      confirmed with molecular-genetic methods. Symptomatic
                      treatment can improve patients' quality of life. The only
                      disease-modifying treatment that has been approved to date
                      is idebenone for the treatment of Leber hereditary optic
                      neuropathy. Intravitreal gene therapy has also been
                      developed for the treatment of this disease; its approval by
                      the European Medicines Agency is pending.Patients with
                      mitochondrial diseases have highly varied manifestations and
                      can thus present to physicians in practically any branch of
                      medicine. A correct diagnosis is the prerequisite for
                      genetic counseling and for the initiation of personalized
                      treatment.},
      subtyp        = {Review Article},
      keywords     = {Adult / DNA, Mitochondrial: genetics / Humans /
                      Mitochondrial Diseases: diagnosis / Mitochondrial Diseases:
                      genetics / Mitochondrial Diseases: therapy / Optic Atrophy,
                      Hereditary, Leber / Quality of Life / DNA, Mitochondrial
                      (NLM Chemicals)},
      cin          = {Clinical Research (Munich)},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34158150},
      pmc          = {pmc:PMC8830351},
      doi          = {10.3238/arztebl.m2021.0251},
      url          = {https://pub.dzne.de/record/163395},
}