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C19orf12 mutation carriers and their first-degree relatives require prospective clinical and genetic work-up

      With interest we read the article by Sparber et al. about 17 Russian patients with mitochondrial membrane protein-associated neurodegeneration (MPAN) due to variants in C19orf12 [
      • Sparber P.
      • Krylova T.
      • Repina S.
      • Demina N.
      • Rudenskaya G.
      • Sharkova I.
      • Sharkov A.
      • Kadyshev V.
      • Kanivets I.
      • Korostelev S.
      • Pomerantseva E.
      • Kaimonov V.
      • Mikhailova S.
      • Zakharova E.
      • Skoblov M.
      Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
      ]. It was concluded that the study expands the genotypic and phenotypic spectrum of MPAN [
      • Sparber P.
      • Krylova T.
      • Repina S.
      • Demina N.
      • Rudenskaya G.
      • Sharkova I.
      • Sharkov A.
      • Kadyshev V.
      • Kanivets I.
      • Korostelev S.
      • Pomerantseva E.
      • Kaimonov V.
      • Mikhailova S.
      • Zakharova E.
      • Skoblov M.
      Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
      ]. We have the following comments and concerns.

      Keywords

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