A heterozygous grid2 mutation in autosomal dominant cerebellar ataxia

HIGHLIGHTS

• who: Kishin Koh from the DepartmentUniversity of have published the article: G,p.Leu656Val)intheGRID2gene" target="_blank">A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia, in the Journal: (JOURNAL) of 26/03/2022

SUMMARY

I-2 II-1 II-2 II-3 7 patients from_[9] Age at examination 32-68 (mean 44.4) Age of onset 10-46 (mean 24.8) Symptoms at onset Gait disturbance Gait disturbance Gait disturbance Dysarthria Gait disturbance Gait instability: 4 persons Hearing loss: 1 person None: 2 persons Total SARA score at first (age, y . . .

 



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