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Bethlem myopathy 2

MONDO:0034022

Also known as: BTHLM2, Bethlem myopathy 2, Bethlem myopathy caused by mutation in COL12A1, Bethlem myopathy type 2, COL12A1 Bethlem myopathy, EDS, myopathic type, Ehlers-Danlos syndrome, myopathic type, myopathic EDS

44 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neuromuscular disease (98) Muscular dystrophy (68) Muscle tissue disorder (53) Syndromic disease (24) Ehlers-Danlos syndrome (17) Human disease (14)

Trials to join now! 22 Not yet recruiting 8 Not yet finished but already full! 4 Completed 9 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC