. . . . . . . "[We report a limb-girdle muscular dystrophy 2I family with three affected sisters and a highly variable clinical course/gene sequencing showed that all three sisters carried a nonsense paternal mutation (W225X).]. 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 . "2017-10-17T13:18:53+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .