Bethlem Myopathy

Overview

How common is Bethlem myopathy?

Bethlem myopathy is a rare condition. As of January 2019, it is estimated to affect less than 1 in 1,000,000 people. The condition is variable and can have mild symptoms, so it is believed that Bethlem myopathy is like underdiagnosed, which means that some people who have Bethlem myopathy have not been diagnosed with Bethlem myopathy.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/bethlem-myopathy-109941/overview/67023 • 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

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