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pro vyhledávání: '"Leila Lehkim"'
Autor:
Chokri Mhiri, Sabrine Rekik, Sawssan Ben Romdhan, Yasmine Baba Amer, François-Jérôme Authier, Nouha Farhat, Leila Lehkim, Salma Sakka
Publikováno v:
Journal of Molecular Neuroscience. 69:563-569
CAPN3 gene encodes for calpain-3; this protein is a calcium-dependent intracellular protease. Deficiency of this enzyme leads to weakness of the proximal limb muscles and pelvic and shoulder girdles, the so-called limb-girdle muscular dystrophy type
Autor:
Leila Lehkim, François-Jérôme Authier, Sawsan Ben Romdhane, Nouha Farhat, Salma Sakka, Mariem Dammak, Khaireddine Ben Mahfoudh, Yasmine Baba Amer, Sabrine Rekik, Chokri Mhiri
Publikováno v:
Molecular biology reports. 47(8)
Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular disorders, caused by mutations in the dysferlin gene and characterized by a high degree of clinical variability even though within the same family. This study aims to