@article{articlec1525583,
title   = {Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment},
author = {Wiessner, Manuela and Roos, Andreas and Munn, Christopher J. and Viswanathan, Ranjith and Whyte, Tamieka and Cox, Dan and Schoser, Benedikt and Sewry, Caroline and Roper, Helen and Phadke, Rahul and Bettolo, Chiara Marini and Barresi, Rita and Charlton, Richard and Bönnemann, Carsten G. and Abath Neto, Osório and Reed, Umbertina C. and Zanoteli, Edmar and Moreno, Cristiane Araújo Martins and Ertl-Wagner, Birgit and Stucka, Rolf and De Goede, Christian and Silva, Tamiris Borges da and Hathazi, Denisa and Dell’Aica, Margherita and Zahedi, René P. and Thiele, Simone and Müller, Juliane and Kingston, Helen and Müller, Susanna and Curtis, Elizabeth and Walter, Maggie C. and Strom, Tim M. and Straub, Volker and Bushby, Kate and Muntoni, Francesco and Swan, Laura E. and Lochmüller, Hanns and Senderek, Jan},
year = {2017},
doi = {10.1016/j.ajhg.2017.01.024},
journal   = {American Journal of Human Genetics}
}