Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
Gonzalez M; Nampoothiri S; Kornblum C; Oteyza AC; Walter J; Konidari I; Hulme W; Speziani F; Schöls L; Züchner S; Schüle R; European Journal Of Human Genetics: EJHG, 2013, vol. 21, issue 11, p 1214, ISSN 14765438. ISBN 14765438.

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