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Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency
OBJECTIVE: To present a new family with tyrosine hydroxylase deficiency (THD) that presented with a new phenotype of predominant, levodopa-responsive myoclonus with dystonia due to compound heterozygosity of one previously reported mutation in the promoter region and a novel nonsynonymous mutation i...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Lippincott Williams & Wilkins
2012
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3405253/ https://ncbi.nlm.nih.gov/pubmed/22815559 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318261714a |
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