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Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
Autosomal-recessive cerebellar ataxias (ARCA) are clinically and genetically heterogeneous conditions primarily affecting the cerebellum. Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine...
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| Publicado no: | Cerebellum |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer US
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5243903/ https://ncbi.nlm.nih.gov/pubmed/26995604 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-016-0769-x |
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