A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

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第一作者： Mohammad A,Al-Muhaizea

第一单位： Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.;College of Medicine, Al Faisal University, Riyadh, Saudi Arabia.

作者： Mohammad A,Al-Muhaizea ^[1] ; Faten,AlMutairi ^[2] ; Rawan,Almass ^[2] ; Safinaz,AlHarthi ^[3] ; Mazhor S,Aldosary ^[2] ; Maysoon,Alsagob ^[2] ; Ali,AlOdaib ^[2] ; Dilek,Colak ^[4] ; Namik,Kaya ^[5]

作者单位： Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.;College of Medicine, Al Faisal University, Riyadh, Saudi Arabia. ^[1] Genetics Department, King Faisal Specialist Hospital and Research Center, MBC: 03, Riyadh, 11211, Saudi Arabia. ^[2] Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. ^[3] Department of Biostatistics and Scientific Computing, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. ^[4] Genetics Department, King Faisal Specialist Hospital and Research Center, MBC: 03, Riyadh, 11211, Saudi Arabia. nkaya@kfshrc.edu.sa. ^[5]

关键词 Autosomal recessive ataxia Autozygosity mapping SCAR14 SPTBN2 p.Arg414Cys