O.13Nemaline myopathy patients with mutations in KBTBD13 display a cardiac phenotype

Nemaline myopathy due to mutations in KBTBD13 (NEM6) is characterized by mild proximal weakness and a peculiar slowness of muscle relaxation. KBTBD13 is also expressed in cardiac muscle. However, a cardiac phenotype in NEM6 has not been reported yet. A member of a large family with the NEM6 Dutch founder mutation KBTBD13R408C visited our cardiogenetic outpatient clinic because of dilated cardiomyopathy. Hence, we aimed to elucidate the consequences of KBTBD13-mutations on cardiac function. A pedigree was constructed, medical reports on cardiac characteristics were collected and cardiological evaluation (ECG, echocardiography, ultrasound and MRI on indication) was performed.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: J. de Winter, K. Bouman, M. van den Berg, J. Strohm, J. Jongbloed, W. van der Roest, J. van Wijngaarden, J. Timmermans, E. Kamsteeg, B. Van Engelen, R. Van der Pijl, H. Granzier, K. van Spaendonck-Zwarts, N. Voermans, C. Ottenheijm Source Type: research