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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...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Lippincott Williams & Wilkins
2012
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| Témata: | |
| On-line přístup: | 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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