科研之友
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摘要
Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhoodonset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.
- 出版日期2017-2
