Associated Papers
Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation.
Molenaar JP et al.
Neuromuscular Disorders : Nmd, 2023
Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.
Yin X et al.
Acta Neurologica Belgica, 2022
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
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Garibaldi M et al.
Acta Neuropathologica Communications, 2018
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N et al.
American Journal of Human Genetics, 2010
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