ArticleNeuromuscular disorders : NMD2014
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
Article in Neuromuscular disorders : NMD, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 41 citations in OpenAlex.
- FBXL21 regulates diurnal proteostasis in skeletal muscle by targeting DNAJB6 and client proteins.EMBO reports · 2026Article
- DNAJB6: A guardian against neurodegeneration.Neural regeneration research · 2026Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.Annals of clinical and translational neurology · 2023Observational
- A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.Acta neuropathologica communications · 2021Article
- Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.International journal of molecular sciences · 2020Review
- Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain.PloS one · 2020Article
- Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.Nature communications · 2018Article
- Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.Annals of clinical and translational neurology · 2018Article
- Genotypic and Phenotypic Heterogeneity of LGMD1D due toYonsei medical journal · 2018Article
- The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due toYonsei medical journal · 2018Article
- LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2018Article
- Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.Yonsei medical journal · 2018Article
- Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.Internal medicine (Tokyo, Japan) · 2017Article
- Granulostasis: Protein Quality Control of RNP Granules.Frontiers in molecular neuroscience · 2017Review
- Cell and Context-Dependent Effects of the Heat Shock Protein DNAJB6 on Neuronal Survival.Molecular neurobiology · 2016Article
- Review
- Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.Trends in molecular medicine · 2016Review
- New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Journal of human genetics · 2016Article
- Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.Human molecular genetics · 2016Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it is a heterogeneous disorder that can present with varying symptoms. There is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European descent using exome sequencing. Exome sequencing was performed on DNA samples from two affected siblings and one unaffected sibling and resulted in the identification of eleven candidate mutations that co-segregated with the disease. Notably, this list included a previously reported mutation in DNAJB6, p.Phe89Ile, which was recently identified as a cause of limb-girdle muscular dystrophy type 1D. Additional family members were Sanger sequenced and the mutation in DNAJB6 was only found in affected individuals. Subsequent haplotype analysis indicated that this DNAJB6 p.Phe89Ile mutation likely arose independently of the previously reported mutation. Since other published mutations are located close by in the G/F domain of DNAJB6, this suggests that the area may represent a mutational hotspot. Exome sequencing provided an unbiased and effective method for identifying the genetic etiology of limb-girdle muscular dystrophy type 1 in a previously genetically uncharacterized family. This work further confirms the causative role of DNAJB6 mutations in limb-girdle muscular dystrophy type 1D.
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