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P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy
P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy
2019
Rocío N. Villar-Quiles
Isabelle Duband-Goulet
Eva Cabet
L. Davignon
Casie A. Genetti
Teresa Gidaro
Asuman Koparir
Adnan Yuksel
Sandra Coppens
Nicolas Deconinck
Emma Pierce-Hoffman
Raul Juntas-Morales
Mireille Cossée
L. Servais
Montse Olivé
Alan H. Beggs
Johann Böhm
Ana Ferreiro
Keywords:
Genetics
Diabetes mellitus
Pathophysiology
Bioinformatics
Biology
Myopathy
Phenotype
Congenital myopathy
Correction
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