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.