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Spinocerebellar "ataxia," "infantile-onset"
- ... hypacusis, and athetosis Genetic Testing Registry: Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization ...
- ... the TWNK gene have been found to cause infantile-onset spinocerebellar ataxia (IOSCA). The most common mutation replaces the protein ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with ...