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Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann +23 morewiley +1 more sourceSurveillance Data Use Through the Fleming Fund: Informing Action on Antimicrobial Resistance in Low- and Middle-Income Countries. [PDF]
Clin Infect DisDrake A, Ofori A, Rahmadanti A, Gupta-Wright A, Disratthakit A, Majekodunmi A, Sasu BK, Gordon NC, Parry C, Mitambo C, Nanjebe D, Sitompul D, Torumkuney D, Wesangula E, Kitutu FE, Hopkins H, Wildfire J, Opintan JA, Armitage J, Kanu JS, Macintyre K, Khurana K, Shehata L, Pathak M, Banjara MR, von Und Zur Mühlen M, Kayani MT, Zaheer MU, Ndahi M, Shetty N, Feasey N, French N, Poudyal N, Siddiky NA, Turner P, Chuki P, Ahsan Q, Maudling R, Amatya R, Sarkar S, Abbas S, Roberts T, Mustafa T, Shorten T, Dzowela T, Leslie T, Okwor T, Aung YN. +47 moreeuropepmc +1 more source