New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several SCA subtypes are difficult to establish, and the...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Movement Disorder Society
2021-01-01
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| Series: | Journal of Movement Disorders |
| Subjects: | |
| Online Access: | http://www.e-jmd.org/upload/jmd-20082.pdf |