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A progressive KY myopathy could be caused by a missense pathogenic variant.

Anna Uhrová MészárosováMarketa VlckovaLadislava RennerovaJana HaberlovaJosef ZamecnikPavel SeemanDana Safka-Brozkova
Published in: Clinical genetics (2023)
Keyphrases
  • multiple sclerosis
  • intellectual disability
  • late onset
  • muscular dystrophy
  • myasthenia gravis
  • duchenne muscular dystrophy