Associated Papers
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients.
van Kleef ESB et al.
Neurology. Genetics, 2024
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
van Kleef ESB et al.
Journal of Neuromuscular Diseases, 2024
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman K et al.
Journal of Neuropathology and Experimental Neurology, 2021
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM et al.
The Journal of Clinical Investigation, 2020
Select a paper to view details