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Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
We report a Japanese family with spastic paraplegia 7 (SPG7) that carries a deleterious homozygous p.R398X mutation in SPG7. The patients showed a predominant cerebellar ataxia phenotype. SPG7 is quite rare in Japan, but it should be included in the differential diagnosis for hereditary spastic-atax...
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| Pubblicato in: | Hum Genome Var |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785587/ https://ncbi.nlm.nih.gov/pubmed/27081526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.12 |
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