Article
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.
BMC research notes - 7 Jun 2016
Bohlega Saeed A, Al-Mubarak Bashayer R, Alyemni Eman A, Abouelhoda Mohamed, Monies Dorota, Mustafa Abeer E, Khalil Dania S, Al Haibi Sara, Abou Al-Shaar Hussam, Faquih Tariq, El-Kalioby Mohamed, Tahir Asma I, Al Tassan Nada A
Abstract excerpt
BACKGROUND: Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. METHOD: Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.