Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients
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DOI: 10.1007/s00415-020-10328-1
Abstract: Non-dystrophic myotonias (NDM) are heterogeneous diseases caused by mutations in CLCN1 and SCN4A. The study aimed to describe the clinical and genetic spectrum of NDM in a large German cohort. We retrospectively identified all patients… read more here.
Keywords: ndm scn4a; non dystrophic; ndm clcn1;
Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells
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DOI: 10.1371/journal.pone.0188821
Abstract: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive muscle disorder caused by mutations in the dystrophin gene. Nonetheless, secondary processes involving perturbation of muscle regeneration probably exacerbate disease progression, resulting in the fatal loss… read more here.
Keywords: myogenic cells; dystrophic myogenic; non dystrophic; dmd myogenic ... See more keywords