ArticleNeurology. Genetics2019
New family with
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Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22citing papers in PubMed
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Who cites it
22 citing papers in PubMed, 31 citations in OpenAlex.
- Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.European journal of human genetics : EJHG · 2025Article
- The Spectrum of Small Heat Shock Protein B8 (International journal of molecular sciences · 2025Review
- Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies.Journal of human genetics · 2025Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- The beauty and complexity of the small heat shock proteins: a report on the proceedings of the fourth workshop on small heat shock proteins.Cell stress & chaperones · 2023Review
- Single-Nuclei RNA-Sequencing of the Gastrocnemius Muscle in Peripheral Artery Disease.Circulation research · 2023Article
- Extension of the DNAJB2a isoform in a dominant neuromyopathy family.Human molecular genetics · 2023Article
- HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.Autophagy · 2023Article
- Article
- Heat Shock Proteins: Important Helpers for the Development, Maintenance and Regeneration of Skeletal Muscles.Muscles (Basel, Switzerland) · 2023Review
- Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.Annals of clinical and translational neurology · 2023Article
- The Role of Small Heat Shock Proteins in Protein Misfolding Associated Motoneuron Diseases.International journal of molecular sciences · 2022Review
- HLH-1 Modulates Muscle Proteostasis DuringFrontiers in cell and developmental biology · 2022Article
- Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.Frontiers in molecular biosciences · 2022Review
- A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.Journal of human genetics · 2021Article
- Hsp22 Deficiency Induces Age-Dependent Cardiac Dilation and Dysfunction by Impairing Autophagy, Metabolism, and Oxidative Response.Antioxidants (Basel, Switzerland) · 2021Article
- The Role of HSPB8, a Component of the Chaperone-Assisted Selective Autophagy Machinery, in Cancer.Cells · 2021Review
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Differential diagnosis of vacuolar myopathies in the NGS era.Brain pathology (Zurich, Switzerland) · 2020Article
- Characterization of Hspb8 in Zebrafish.Cells · 2020Article
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Authors and funding
9 authors at 2 institutions in 3 countries.
Sejad Al-TahanDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Lan WeissDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Howard YuDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Sha TangDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Mario SaportaDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Anna ViholaDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Tahseen MozaffarDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Bjarne UddDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.
Virginia KimonisDivision of Genetics and Genomic Medicine (S.A.-T., L.W., H.Y.), Department of Pediatrics, University of California, Irvine; Opti West (S.A.-T.), West Anaheim Medical Center, Anaheim; Ambry Genetics (S.T.), Mission Viejo, CA; Miller School of Medicine (M.S.), University of Miami, FL; Folkhälsan Institute of Genetics and the Department of Medical Genetics (A.V., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V., B.U.), Tampere University and University Hospital, Neurology, Finland; Neuromuscular Program (T.M.), Department of Neurology, University of California-Irvine, Orange; and Neurology Department (B.U.), Vasa Central Hospital, Finland.ORCID 0000-0003-1567-4449
University of Miami · USTampere University · FI
Funding
University of California Health Participation in the National COVID Cohort Collaborative (N3C)UL1TR001414 · NCATS · UNIVERSITY OF CALIFORNIA-IRVINE · PI COOPER, DAN M, VILAIN, ERIC J. · 2015 to 2023
$35.1MInstitutional Career Development CoreKL2TR002737 · NCATS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI RUNDEK, TATJANA, SCOTT, GWENDOLYN BARBARA · 2018 to 2022
$3.6MNCATS NIH HHS KL2 TR002737NCATS NIH HHS UL1 TR001414
Abstract
objectiveWe clinically and molecularly characterize a new family with autosomal dominant rimmed vacuolar myopathy (RVM) caused by mutations in the
methodsWe performed whole-exome and whole-genome sequencing in the family. Western blot and immunocytochemistry were used to analyze 3 patient fibroblasts, and findings were compared with their age- and sex-matched controls.
resultsAffected patients have distal and proximal myopathy, with muscle biopsy showing rimmed vacuoles, muscle fiber atrophy, and endomysial fibrosis typical of RVM. Muscle MRI showed severe relatively symmetric multifocal fatty degenerative changes of the lower extremities. We identified a duplication of C at position 515 of the
conclusionsWe report a novel family with autosomal dominant RVM caused by the c.515dupC mutation of the
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