The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Collagen VI related muscle disorders
Open accessAbstract
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity. Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders.
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Citations
Cites
Steinmann, B., Royce, P. M., & Superti‐Furga, A. (2002) · Connective Tissue and Its Heritable Disorders · doi:10.1002/0471221929.ch9 · Cited by 358
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Metadata
- Authors
- Lampe, A. K., & Bushby, K. M. D.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-09
- Volume
- 42
- Issue
- 9
- Pages
- 673-685
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2130036778
- Cited by
- 394
- References
- 1
- FWCI
- 5.42
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Lampe, A. K., & Bushby, K. M. D. (2005). Collagen VI related muscle disorders. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2002.002311
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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.
