. . . . . . . "[The clinical spectrum for this family is in agreement with a clinical diagnosis of Becker myotonia/was confirmed by molecular diagnosis where a new disease-causing mutation (Q412P) was found in the family and absent in 200 unaffected chromosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:35+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .