Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
2010
Franco Taroni and colleagues report the identification of mutations in AFG3L2 that cause dominant spinocerebellar ataxia type 28. Along with paraplegin, AFG3L2 forms a protein complex with ATPase and metalloprotease activities and functions in the maintenance of the mitochondrial proteome.
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