http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_head http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_assertion http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_provenance http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_assertion http://identifiers.org/ncbigene/2318 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C2678065 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN4249223ab8cb8cc80d5001dc492fac08 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2318 http://rdf.disgenet.org/resource/gda/DGN4249223ab8cb8cc80d5001dc492fac08 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2678065 http://rdf.disgenet.org/resource/gda/DGN4249223ab8cb8cc80d5001dc492fac08 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_provenance http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_assertion http://purl.org/dc/terms/description [Understanding of this group of disorders has advanced in recent years through the identification of causative mutations in various genes, most of which encode proteins of the sarcomeric Z-disc, including desmin, alphaB-crystallin, myotilin, ZASP and filamin C. This review focuses on the MFMs arising from defects in these proteins, summarising genetic and clinical features of the disorders and then discussing emerging understanding of the molecular pathogenic mechanisms leading to muscle fibre degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18764962 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/dc/terms/created 2015-08-25T14:41:37+02:00 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP407335.RAhwk0OowCv-lraw_15Y_1yI2G_0qRWFvQuTU24j3JWlc http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0