A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
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DOI: 10.1016/j.jns.2017.08.3260
Abstract: Abstract Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene. This gene encodes a calcium-independent group VI phospholipase A2 (iPLA-VI)… read more here.
Keywords: dystrophy; infantile neuroaxonal; family; pla2g6 mutation ... See more keywords