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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

5 clinical trials for this condition and its sub-types, 1 tagged with Nemaline myopathy 6 itself.

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Where it sits in the disease tree

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Part of

↑ Childhood-onset nemaline myopathy (2)

Including sub-types (5) Tagged with Nemaline myopathy 6 (1)

Trials to join now! 1

Spanish study tracks rare muscle disease to speed future treatments

Knowledge-focused Recruiting now

This study follows 100 people in Spain with nemaline myopathy, a rare muscle disease, to see how their symptoms change over time. Researchers will use ultrasound, movement tests, and breathing checks to map the disease's natural course. The goal is to build a detailed patient dat…

Sponsor: Hospital Universitari Vall d'Hebron Research Institute • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:00 UTC