Application | Comment | Organism |
---|---|---|
medicine | mutations in the dysferlin gene cause several muscular dystrophy phenotypes including limb girdle 2B, Miyoshi myopathy, and distal anterior compartment myopathy. These disorders are characterized by autosomal recessive inheritance, early adult onset, and elevated levels of serum creatine kinase | Homo sapiens |
Organism | UniProt | Comment | Textmining |
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Homo sapiens | - |
- |
- |