Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems
ZR Gregorich, Y Zhang, TJ Kamp… - Circulation: Genomic …, 2024 - Am Heart Assoc
RBM20 (RNA-binding motif protein 20) is a vertebrate-and muscle-specific RNA-binding
protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene …
protein that belongs to the serine-arginine-rich family of splicing factors. The RBM20 gene …
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause
disease. Only very few examples of digenic inheritance have been described in the …
disease. Only very few examples of digenic inheritance have been described in the …