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Early Hum Dev 94:2530

Weeks 4-8: Continued healing, tissue remodeling, and functional improvement

Reagent III: 8 mL1

Similar content being viewed by others Introduction Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominant cerebellar ataxia characterized by motor incoordination, progressive external ophthalmoplegia, progressive functional disabilities, and other neurological manifestations

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Recently, furthermore, human patients with a homozygous truncating variant c.335dupG (p.C112Wfs*11) in the SOD1 gene that leads to total absence of the enzymatic activity were reported, and the resulting phenotype was marked by progressive loss of motor abilities [9, 10]