RESUMO

Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset 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.

Assuntos

Adenilil Ciclases/genética , Hemiplegia/genética , Adolescente , Criança , Humanos , Masculino , Mutação