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Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations
BACKGROUND: Parkin mutations are suspected in early-onset Parkinson’s disease with early motor complications, and in pedigrees showing an autosomal recessive pattern. Some compound heterozygous mutations can present with various uncommon phenotypes. CASE REPORT: Two siblings with the same mutations,...
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| Publicado no: | Tremor Other Hyperkinet Mov (N Y) |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Ubiquity Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7427657/ https://ncbi.nlm.nih.gov/pubmed/32864185 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5334/tohm.55 |
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