Common and Variable Clinical, Histological, and Imaging Findings of Recessive RYR1-related Centronuclear Myopathy Patients.
Osorio Abath Neto,Cristiane de Araujo Martins Moreno,Edoardo Malfatti,Sandra Donkervoort,Johann Bohm,Julio Brandao Guimaraes,A. Reghan Foley,Payam Mohassel,Jahannaz Dastgir,Diana Xerxes Bharucha-Goebel,Soledad Monges,Fabiana Lubieniecki,James Collins,Livija Medne,Mariarita Santi,Sabrina Yum,Brenda Banwell,Emmanuelle Salort-Campana,John Rendu,Julien Faure, Uluc Yis, Bruno Eymard, Chrystel Cheraud, Raphael Schneider, Julie Thompson, Xaviere Lornage, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-Francois Deleuze, Umbertina Conti Reed, Acary Souza Bulle Oliveira, Valerie Biancalana, Norma B. Romero, Carsten G. Bonnemann, Jocelyn Laporte, Edmar Zanoteli Neuromuscular disorders（2017）
Key words
RYR1,Centronuclear myopathy,Congenital myopathies
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