Bethlem Myopathy

Overview

What are other names for Bethlem myopathy?

Bethlem myopathy may also be referred to as a collagen type VI-related disorder. In Bethlem myopathy, collagen VI is not working properly, due to a genetic variant in one of the genes that code for collagen VI: COL6A1, COL6A2, or COL6A3.

When Bethlem myopathy was first described, it was referred to as benign myopathy with autosomal dominant inheritance. Other older terms that have been used are benign congenital myopathy, benign congenital myopathy muscular dystrophy, and benign congenital myopathy with contractures.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/bethlem-myopathy-109941/overview/67022 • DATE UPDATED: 2019-02-21

References

Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 158810: October 4, 2018: https://omim.org/entry/158810 Accessed 21FEB19

Lampe AK, Flanigan KM, Bushby KM, et al. Collagen Type VI-Related Disorders. 2004 Jun 25 [Updated 2012 Aug 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1503/

Genetics home reference, Collagen VI-related myopathy, https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy Accessed 21FEB19

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me