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http://purl.uniprot.org/citations/28233300http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28233300http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28233300http://www.w3.org/2000/01/rdf-schema#comment"

Background

Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy.

Materials and methods

Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of the causal mutation were investigated in vitro.

Results

Exome sequencing of the two affected individuals in this family identified a heterozygous mutation, c.287C>T (p.Pro96Leu) in the DNAJB6 gene, which co-segregated with the myopathy within all 12 family members. Notably, this mutation is novel and localizes within the glycine and phenylalanine-rich (G/F) domain and alters an amino acid residue previously reported with a different mutation. Furthermore, immunofluorescence analyses and filter trap assay demonstrated that the c.287C>T (p.Pro96Leu) mutation possessed a dominant negative effect on the anti-aggregation function of DNAJB6 protein.

Conclusion

This study expands the molecular spectrum of DNAJB6 mutations and also emphasizes the pathogenic role of DNAJB6 dysfunction in distal-onset myopathy."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.org/dc/terms/identifier"doi:10.1111/cge.13001"xsd:string
http://purl.uniprot.org/citations/28233300http://purl.org/dc/terms/identifier"doi:10.1111/cge.13001"xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Chen Y.H."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Chen Y.H."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Lee Y.C."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Lee Y.C."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Tsai Y.S."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Tsai Y.S."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Huang Y.H."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Huang Y.H."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Wu H.T."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Wu H.T."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Tsai P.C."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Tsai P.C."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Soong B.W."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Soong B.W."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Liao Y.C."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Liao Y.C."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Lin K.P."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/author"Lin K.P."xsd:string
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28233300http://purl.uniprot.org/core/date"2017"xsd:gYear
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