Encontrado 1 documento, a visualizar página 1 de 1

Juvenile Parkinson disease caused by parkin mutations: large deletions and path...

Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina ; Autosomal recessive juvenile Parkinson disease (AR-JP) is mainly caused by mutations in PARK2. AR-JP presents with rigidity, bradykinesia and resting tremor, usually before age 40 years. Large PARK2 deletions account for 50% of the mutations identified in patients with AR-JP of Portuguese origin. The PARK2 gene encodes parkin, an...