Table 1: Z-disc proteins involved in human disease.

Name of gene Type of disease α actinin (central Z-disc) Cardiomyopathy Muscle LIM protein (MLP) Cardiomyopathy Telethonin (TCAP) Cardiomyopathy, LGMD2G Actin Cardiomyopathy Integrin-linked kinase (ILK) DCM Calsarcin1 (Myozenin, ZASP) Cardiomyopathy, myofibrillar myopathy (MFM) zaspopathies FHL1 (four and a half LIM domain protein) X-linked myopathy with postural muscle atrophy (XMPMA), scapuloperoneal (SP), reducing body myopathy (RBM) Cypher (Zasp, Oracle) Cardiomyopathy, MFM Desmin (Z-disc related) Multiple Nebulin/Nebulette Nemaline myopathy Myotilin LGMD, MFM, myotilinopathy BAG3 Cardiomyopathy, MFM Titin (Z-disc)* Cardiomyopathy (titinopathies)

Z-disc protein mutations cause a wide spectrum of diseases, which may be called “Z-discopathies”. Titin mutation itself cause a broad spectrum of diseases (here we refer only to mutations affecting the Z-disc). The term cardiomyopathy includes at least HCM and DCM, other types of heart failure such as arrhythmogenic right ventricular myopathy.