DESCRIBE <http://purl.uniprot.org/citations/23519732>

Subject	Predicate	Object
http://purl.uniprot.org/citations/23519732	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23519732	http://www.w3.org/2000/01/rdf-schema#comment	" Introduction Diagnosis of the limb-girdle muscular dystrophies (LGMDs) has been facilitated by the use of immunofluorescence microscopy, Western blot analysis, and rapid genetic testing. Methods We identified 7 patients with LGMD2B or Miyoshi myopathy (MM) phenotypes and performed detailed history, physical examination, and mutation analyses of genomic DNA. Results Ten disease-causing variants of the dysferlin gene (DYSF) were detected, 4 of which were novel and predicted to be pathogenic (IVS33+9G>T, c.1343T>C, c.4747T>G, and c.5066dupC). Two of these mutations (c.1343T>C and IVS33+9G>T) were associated with a reduction in sarcolemmal dysferlin expression, despite increased total mRNA and protein in mixed muscle homogenates, due to a pathological retention of the mutated polypeptide in the cytoplasm. Conclusions Considering that protein-based assays may yield false negative test results and that dysferlin aggregation may be present in other LGMDs, mutational screening is necessary for specific diagnosis in primary dysferlinopathy patients exhibiting this phenotype."xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.org/dc/terms/identifier	"doi:10.1002/mus.23666"xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/author	"Tarnopolsky M.A."xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/author	"Saeed M."xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/author	"Nilsson M.I."xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/author	"Laureano M.L."xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/date	"2013"xsd:gYear
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/name	"Muscle Nerve"xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/pages	"740-747"xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/title	"Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis."xsd:string
http://purl.uniprot.org/citations/23519732	http://purl.uniprot.org/core/volume	"47"xsd:string
http://purl.uniprot.org/citations/23519732	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/23519732
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http://purl.uniprot.org/uniprot/#_B7Z8G4-mappedCitation-23519732	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/#_B7Z2R1-mappedCitation-23519732	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/#_E5KVZ4-mappedCitation-23519732	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/#_Q7Z6P1-mappedCitation-23519732	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/#_O75923-mappedCitation-23519732	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/#_Q8TCI0-mappedCitation-23519732	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/Q8TCI0	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/E5KVZ4	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/B7Z2R1	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/23519732
http://purl.uniprot.org/uniprot/Q7Z6P1	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/23519732
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