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Spinocerebellar ataxia 28 [Supplementary Concept]

A hereditary autosomal dominant spinocerebellar ataxia with onset typically between 20 and 30 years of age. It is characterized by gait abnormalities; limb ataxia, DYSARTHRIA; slow and lower limb HYPERREFLEXIA; OCULAR MOTILITY DISORDERS; and BLEPHAROPTOSIS. Mutations in the AFG3L2 gene have been identified. OMIM: 610246

Date introduced: August 25, 2010

MeSH Unique ID: C537205

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Entry Terms:

  • SCA28 Spinocerebellar ataxia 28

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