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Nemaline myopathy 6

MONDO:0012237

Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.

Also known as: KBTBD13 nemaline myopathy, nemaline myopathy 6, nemaline myopathy caused by mutation in KBTBD13, nemaline myopathy type 6, NEM6

38 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) Muscle tissue disorder (53) Human disease (14) Nemaline myopathy (13) Myopathy (11) Congenital myopathy (8) Skeletal muscle disorder (8)
Trials to join now! 19 Not yet recruiting 7 Not yet finished but already full! 4 Completed 7 Terminated 1
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  • 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

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