Spinocerebellar ataxia type 7 with RP1L1-negative occult macular dystrophy as retinal manifestation
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DOI: 10.1080/13816810.2019.1633548
Abstract: ABSTRACT Background: Spinocerebellar ataxia Type 7 (SCA7) is an autosomal dominant, progressive neurodegenerative disorder, primarily characterized by cerebellar ataxia. The disease is caused by the expansion of a CAG trinucleotide repeat within the ataxin-7 gene… read more here.
Keywords: ataxia type; spinocerebellar ataxia; occult macular; rp1l1 negative ... See more keywords