A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

(2018) Matteo Garibaldi et al.   Acta Neuropathologica Communications

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

(2018) Sarah Moreau-Le Lan et al.   PLoS One

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

(2012) Nyamkhishig Sambuughin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nemaline myopathy type 6: Clinical and myopathological features

(2010) Montse Olivé et al.   MUSCLE & NERVE

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008

(2009) Nigel G. Laing et al.   NEUROMUSCULAR DISORDERS