Blättern Molekulare Medizin nach "Thoms, Sven PD Dr." Betreuer
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Dysferlin and its role in the pathogenesis of muscular dystrophy
(2013-11-21)Dysferlin is a multi C2 domain protein that belongs to the ferlin family and is localized to the T-tubule system in skeletal muscle fibers. It is involved in skeletal muscle membrane repair, regeneration and T-tubule ... -
Dysferlin in skeletal and heart muscle: from trafficking to therapy
(2017-09-19)Dysferlinopathies are a heterogeneous group of congenital muscle disorders characterized by late-onset muscular dystrophy and increased muscle prowess before onset of symptoms. Mutations in the DYSF gene encoding the protein ...