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Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report.

Monica S ArroyoChristine FullerElizabeth K SchorryElizabeth UlmCuixia Tian
Published in: Neurology. Genetics (2024)
-related neurologic diseases.
Keyphrases
  • muscular dystrophy
  • duchenne muscular dystrophy
  • multiple sclerosis
  • early onset
  • copy number
  • gene expression
  • drug induced