Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports

• Auteurs principaux: Hassan Dastsooz (Auteur), Hamid Nemati (Auteur), Mohammad Ali Farazi Fard (Auteur), Majid Fardaei (Auteur), Mohammad Ali Faghihi (Auteur)
• Format: Livre
• Publié: BMC, 2017-08-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which...