Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. - Leegwater,P.A.; Yuan,B.Q.; van der Steen,J.; Mulders,J.; Konst,A.A.; Boor,P.K. (Am J Hum Genet, 2001)