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