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Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.

Ian C SmithChantal A PileggiYing WangKristin KernohanTaila HartleyHugh J McmillanMarcos Loreto SampaioGerd MelkusJohn M WoulfeGaganvir ParmarPierre Raymond BourqueThanh B NguyenJocelyn Christine ZwickerC Elizabeth PringleOlga JarinovaHanns LochmüllerDavid A DymentBernard BraisKym M Boycottnull nullSiegfried HekimiMary-Ellen HarperJodi Warman-Chardon
Published in: Neurology. Genetics (2023)
deficiency previously reported in the literature.
Keyphrases
  • systematic review
  • intellectual disability
  • replacement therapy
  • autism spectrum disorder