Article
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
European journal of medical genetics - 1 Dec 2017
Dard Rodolphe, Meyniel Claire, Touitou Valérie, Stevanin Giovanni, Lamari Foudil, Durr Alexandra, Ewenczyk Claire, Mochel Fanny
Abstract excerpt
Defects of phospholipids remodelling and synthesis are inborn errors of metabolism responsible for various clinical presentations including spastic paraplegia, retinopathy, optic atrophy, myo- and cardiomyopathies, and osteo-cutaneous manifestations. DDHD1 encodes a phospholipase A1, which is involved in the remodelling of phospholipids. We previously described a relatively pure hereditary spastic paraplegia...
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