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

Name of geneType of disease

α actinin (central Z-disc)Cardiomyopathy
Muscle LIM protein (MLP)Cardiomyopathy
Telethonin (TCAP)Cardiomyopathy, LGMD2G
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/NebuletteNemaline myopathy
MyotilinLGMD, MFM, myotilinopathy
BAG3Cardiomyopathy, 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.