Article
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).
Neurology - 29 Apr 2008
Kurian M A, Morgan N V, MacPherson L, Foster K, Peake D, Gupta R, Philip S G, Hendriksz C, Morton J E V, Kingston H M, Rosser E M, Wassmer E, Gissen P, Maher E R
Abstract excerpt
BACKGROUND: Neurodegeneration associated with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders in which disruption of cellular mechanisms leads to accumulation of iron in the basal ganglia. This group includes patients with recently discovered mutations in the PLA2G6 gene encoding a calcium-independent phospholipase A2 enzyme that catalyzes the hydrolysis of glycerophospholipids....
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