| http://purl.uniprot.org/citations/24170373 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24170373 | http://www.w3.org/2000/01/rdf-schema#comment | "IntroductionDNAJB6 mutations cause an autosomal dominant myopathy that can manifest as limb-girdle muscular dystrophy (LGMD1D/1E) or distal-predominant myopathy. In the majority of patients this myopathy manifests in adulthood and shows vacuolar changes on muscle biopsy.MethodsClinical, electrophysiological, pathological, and molecular findings are reported.ResultsWe report a 56-year-old woman, who, like 3 other family members, became symptomatic in childhood with slowly progressive limb-girdle muscle weakness, normal serum creatine kinase (CK) values, and myopathic electromyographic findings. Muscle biopsy showed vacuolar changes and congophilic inclusions, and molecular analysis revealed a pathogenic mutation in the DNAJB6 gene. Differences and similarities with previously described cases are assessed.ConclusionsChildhood-onset of DNAJB6 myopathy is more frequent than previously believed; congophilic inclusions may be present in the muscle of these patients."xsd:string |
| http://purl.uniprot.org/citations/24170373 | http://purl.org/dc/terms/identifier | "doi:10.1002/mus.24106"xsd:string |
| http://purl.uniprot.org/citations/24170373 | http://purl.uniprot.org/core/author | "Milone M."xsd:string |
| http://purl.uniprot.org/citations/24170373 | http://purl.uniprot.org/core/author | "Winder T."xsd:string |
| http://purl.uniprot.org/citations/24170373 | http://purl.uniprot.org/core/author | "Suarez-Cedeno G."xsd:string |
| http://purl.uniprot.org/citations/24170373 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24170373 | http://purl.uniprot.org/core/name | "Muscle Nerve"xsd:string |
| http://purl.uniprot.org/citations/24170373 | http://purl.uniprot.org/core/pages | "607-610"xsd:string |
| http://purl.uniprot.org/citations/24170373 | http://purl.uniprot.org/core/title | "DNAJB6 myopathy: a vacuolar myopathy with childhood onset."xsd:string |
| http://purl.uniprot.org/citations/24170373 | http://purl.uniprot.org/core/volume | "49"xsd:string |
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