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- assertion description "[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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17439981 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.