[An R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyper-CK-emia, rippling muscle disease, distal myopathy, and limb-girdle musclar dystrophy 1C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE