. . . . . . . . . . . . "[In another family previously diagnosed as having Thomsen's disease, we unexpectedly found a CLCN1 14 bp deletion known to cause recessive myotonia, and a rare Trp-118-Gly polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2016-01-25"^^ . "2016-05-13T12:41:53+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .