dgn-np:NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_provenance {
  dgn-np:NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion dcterms:description "[Initial reports of patients with laminin alpha2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic white matter hypodensity on cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:11584042 ;
    prov:wasDerivedFrom dgn-void:befree-20140225 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}