Associated Papers
A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report.
Kang ZX et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
Previtali SC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
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
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