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AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia
BACKGROUND: Spinocerebellar ataxia (SCA) is neurodegenerative disorders with autosomal dominant inheritance, characterized by progressive ataxia. More than 30 types of SCA are known caused by various causative genes. SCA3 (MJD1 gene) is the most common form of SCA. We present an SCA3 family with com...
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| Publicado en: | Ann Transl Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
AME Publishing Company
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641712/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s065 |
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