Articles with "dysferlin deficiency" as a keyword



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Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24010076

Abstract: Dysferlinopathies are a clinically heterogeneous group of muscular dystrophies caused by a genetic deficiency of the membrane-associated protein dysferlin, which usually manifest post-growth in young adults. The disease is characterized by progressive skeletal muscle wasting… read more here.

Keywords: dysferlin deficiency; deficiency; myofiber type; glycogen metabolism ... See more keywords