The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
A dysfunctional desmin mutation in a patient with severe generalized myopathy
Open accessAbstract
Mice lacking desmin produce muscle fibers with Z disks and normal sarcomeric organization. However, the muscles are mechanically fragile and degenerate upon repeated contractions. We report here a human patient with severe generalized myopathy and aberrant intrasarcoplasmic accumulation of desmin intermediate filaments. Muscle tissue from this patient lacks the wild-type desmin allele and has a desmin gene mutation encoding a 7-aa deletion within the coiled-coil segment of the protein. We show that recombinant desmin harboring this deletion cannot form proper desmin intermediate filament networks in cultured cells, nor is it able to assemble into 10-nm filaments in vitro . These findings provide direct evidence that a mutation in desmin can cause human myopathies.
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Cites
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Cited by
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Mutation in BAG3 causes severe dominant childhood muscular dystrophy
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Metadata
- Authors
- Muñoz-Mármol, A. M., Strasser, G., Isamat, M., Coulombe, P. A., Yang, Y., Roca, X., Vela, E., Mate, J. L., Coll, J., Fernández-Figueras, M. T., Navas-Palacios, J. J., Ariza, A., & Fuchs, E.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1998-09-15
- Volume
- 95
- Issue
- 19
- Pages
- 11312-11317
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2104555172
- Cited by
- 256
- References
- 25
- FWCI
- 6.20
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Muñoz-Mármol, A. M., Strasser, G., Isamat, M., Coulombe, P. A., Yang, Y., Roca, X., Vela, E., Mate, J. L., Coll, J., Fernández-Figueras, M. T., Navas-Palacios, J. J., Ariza, A., & Fuchs, E. (1998). A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.95.19.11312
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
