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.
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F
Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bonnemann CG
タイトル
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
