J Korean Neurol Assoc.
2018 Aug;36(3):215-219. 10.17340/jkna.2018.3.16.
A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation
- Affiliations
-
- 1Department of Neurology, Pusan National University School of Medicine, Busan, Korea. yepark407@gmail.com
- 2Biomedial Research Institute, Pusan National University Hospital, Busan, Korea.
- 3Department of Pathology, Pusan National University School of Medicine, Busan, Korea.
- 4Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
- KMID: 2436082
- DOI: http://doi.org/10.17340/jkna.2018.3.16
Abstract
- Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype, and limb-girdle muscular dystrophy. These patients present with joint hyperextensibility and/or contractures as well as skin changes and muscle weakness, and so clinicians need to notice those extramuscular symptoms in order to achieve a correct diagnosis. We describe the clinical, pathological, and radiological features in a family with Bethlem myopathy caused by a COL6A1 mutation.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
- A Family of Bethlem Myopathy
- Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea
- Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report
- Cap Myopathy With a Heterozygous TPM3 Missense Mutation
