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