POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
von Renesse A, Petkova MV, Lützkendorf S, Heinemeyer J, Gill E, Hübner C, von Moers A, Stenzel W, Schuelke M. J Med Genet. 2014 Apr; 51(4):275-82. Epub 2014 Feb 20.