Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family. Issue 4 (7th May 2015) - Palmio, Johanna; Evilä, Anni; Bashir, Ayat; Norwood, Fiona; Viitaniemi, Kati; Vihola, Anna; Huovinen, Sanna; Straub, Volker; Hackman, Peter; Hirano, Michio; Bushby, Kate; Udd, Bjarne