Ehlers-Danlos syndrome myopathic type

Definition:

Ehlers-Danlos syndrome myopathic type (EDSMYP), also known as Bethlem myopathy 2 (BTHLM2), shows clinical features of both a myopathy as well as of a disorder of connective tissue. Although the symptoms are similar to that of the collagen VI-related myopathy, patients don't have mutations in collagen VI. It has been reported that mutations in collagen XII (COL12A1) cause this disease.

References:

[1]. Angela F Brady, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. [Content Brief]

[2]. Debbie Hicks, et al. Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet. 2014 May 1;23(9):2353-63. [Content Brief]

[3]. Yaqun Zou, et al. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014 May 1;23(9):2339-52. [Content Brief]

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