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Literature summary for 2.7.3.2 extracted from

  • Illa, I.; De Luna, N.; Dominguez-Perles, R.; Rojas-Garcia, R.; Paradas, C.; Palmer, J.; Marquez, C.; Gallano, P.; Gallardo, E.
    Symptomatic dysferlin gene mutation carriers: characterization of two cases (2007), Neurology, 68, 1284-1289.
    View publication on PubMed

Application

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

Organism UniProt Comment Textmining
Homo sapiens
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