title: Clinical utility gene card for: Centronuclear and myotubular myopathies.
authors.affiliation: Laboratoire de Diagnostic Génétique, Faculté de Médecine-CHRU, 1 place de l'Hôpital, Strasbourg, France. valerie.biancalana@chru-strasbourg.fr
authors.forename: Valérie
authors.initials: V
authors.lastname: Biancalana
authors.forename: Alan H
authors.initials: AH
authors.lastname: Beggs
authors.forename: Soma
authors.initials: S
authors.lastname: Das
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Kathryn
authors.initials: K
authors.lastname: North
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D034285:Dynamin II / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C101410:BIN1 protein, human; D009687:Nuclear Proteins; D019837:Ryanodine Receptor Calcium Release Channel; D025521:Tumor Suppressor Proteins; C515634:MTMR14 protein, human; D010744:Phosphoric Monoester Hydrolases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin; D034285:Dynamin II