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ADCY5 mutations are another cause of benign hereditary chorea
OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC). METHODS: We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diagnosis of BHC was based on the presence of a childh...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurology |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Lippincott Williams & Wilkins
2015
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4501937/ https://ncbi.nlm.nih.gov/pubmed/26085604 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001720 |
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