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Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-09 , DOI: 10.1002/mgg3.1314 Quan-Fu Li 1 , Hao-Ling Cheng 2 , Lu Yang 1 , Yin Ma 1 , Jing-Jing Zhao 1 , Yi Dong 1 , Zhi-Ying Wu 1
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-09 , DOI: 10.1002/mgg3.1314 Quan-Fu Li 1 , Hao-Ling Cheng 2 , Lu Yang 1 , Yin Ma 1 , Jing-Jing Zhao 1 , Yi Dong 1 , Zhi-Ying Wu 1
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Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare. Clinical features and genetic characteristics of them were seldom studied.
中文翻译：
3型纯合脊髓小脑共济失调的临床特征和遗传学特征
在ATXN3的两个等位基因中，胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复突变扩大的纯合子3型小脑共济失调（SCA3）患者极为罕见。很少研究它们的临床特征和遗传特征。
更新日期：2020-09-14
中文翻译：
3型纯合脊髓小脑共济失调的临床特征和遗传学特征
在ATXN3的两个等位基因中，胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复突变扩大的纯合子3型小脑共济失调（SCA3）患者极为罕见。很少研究它们的临床特征和遗传特征。
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