KBTBD13 is a novel cardiomyopathy gene

Animal models and animal-free innovations for cardiovascular research: current status and routes to be explored. Consensus document of the ESC Working Group on Myocardial Function and the ESC Working Group on Cellular Biology of the Heart

(2022) Jolanda van der Velden et al.   CARDIOVASCULAR RESEARCH

KBTBD13 is an actin-binding protein that modulates muscle kinetics

(2019) Josine M. de Winter et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2019) Zhi‐Xia Kang et al.   NEUROPATHOLOGY

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

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

(2016) Yigal M. Pinto et al.   EUROPEAN HEART JOURNAL

Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations

(2015) I. Olivotto et al.   CARDIOVASCULAR RESEARCH

Review of Cardiac Disease in Nemaline Myopathy

(2015) Josef Finsterer et al.   PEDIATRIC NEUROLOGY

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