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Autor:
Jakub Malcher, Leonie Heidt, Aurélie Goyenvalle, Helena Escobar, Andreas Marg, Cyriaque Beley, Rachid Benchaouir, Michael Bader, Simone Spuler, Luis García, Verena Schöwel
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 13, Iss , Pp 198-207 (2018)
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair
Externí odkaz:
https://doaj.org/article/5d1d3497ef3d4ad2a0b0bfd742e30f43
