Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

ConclusionGene dosage effect may play an important role in the AAO and severity of disease, and homozygosity forATXN3 enhances phenotypic severity. Our findings expand clinical features and genetic characteristics of homozygous SCA3 patients.

Source: Molecular Genetics & Genomic Medicine - July 8, 2020 Category: Genetics & Stem Cells Authors: Quan-Fu Li, Hao ‐Ling Cheng, Lu Yang, Yin Ma, Jing‐Jing Zhao, Yi Dong, Zhi‐Ying Wu Tags: ORIGINAL ARTICLE Source Type: research