Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaHumansFemaleYoung AdultMutationATPases Associated with Diverse Cellular Activities
[Type 28 spinocerebellar ataxia].
I V Krasakov, I V Litvinenko, L A Khublarova
Published: 202510.17116/jnevro202512511261
Abstract
We present a case of rare autosomal dominant spinocerebellar ataxia type 28 caused by a heterozygous mutation of the AFG3L2 gene (SCA 28, SCA-AFG3L2, OMIM: 610246). The clinical presentation included a combination of visual and oculomotor disorders,…
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