. . . . . . . "[study of patients with congenital myasthenic syndromes with mutations in DOK7; none with DOK7 mutations had tubular aggregates in muscle biopsy, implying'limb-girdle myasthenia with tubular aggregates'may be distinct from CMS caused by DOK7 mutations]. 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 . "2017-10-17T13:19:14+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .