A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia
Jinhee Kim, Ilsoo Kim, Seong‐Beom Koh
Topics & Concepts
MyoclonusProgressive myoclonus epilepsyAtaxiaMutationMedicineEpilepsyGeneticsInternal medicineNeuroscienceEndocrinologyPediatricsPsychologyBiologyPsychiatryGeneGlycogen Storage Diseases and MyoclonusBiochemical and Molecular ResearchLysosomal Storage Disorders Research