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A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.

Aida GhasemiMahdieh Eslami ArdakaniMansoureh ToghaNarges YazdiAnthony E LangElahe AminiMohammad RohaniAfagh Alavi
Published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2024)
variants and introduces a novel likely pathogenic variant for testing in MLIV cases that remain unresolved.
Keyphrases
  • copy number
  • early onset
  • deep brain stimulation
  • drug induced
  • genome wide
  • gene expression
  • dna methylation