Table 1. Genetic diversity of idiopathic cardiomyopathy (ICM).
Localization | Type of ICM | Inheritance# | Symbol | Encoding Protein | Muscular Dystrophy |
Sarcomere | HCM, DCM | AD | MYH7 | Cardiac b-myosin heavy chain | |
HCM, DCM | AD | MYH6 | Cardiac a-myosin heavy chain | ||
HCM, DCM | AD | MYBPC3 | Cardiac myosin binding protein-C | ||
HCM | AD | MYL3 | Essential myosin light chain | ||
HCM | AD | MYL2 | Regulatory myosin light chain | ||
HCM, DCM | AD | TNNT2 | Cardiac troponin T | ||
HCM, DCM, RCM | AD | TNNI3 | Cardiac troponin I | ||
HCM, DCM | AD | TNNC1 | Cardiac troponin C | ||
HCM, DCM | AD | TPM1 | Alpha-tropomyosin | ||
HCM, DCM | AD | ACTC | Cardiac a-actin | Nemaline myopathy (Mutaions in skeletal muscle a-actin, ACTA1) | |
Z-band | HCM, DCM | AD | TTN | Titin/connectin | Limb-girdle muscular dystrophy, type 2J (LGMD2J) |
HCM, DCM | AD | TCAP | T-cap/telethonin | Limb-girdle muscular dystrophy, type 2G (LGMD2G) | |
HCM, DCM | AD | ACTN2 | Alpha-actinin | ||
HCM, DCM | AD | CSRP3 | Muscle LIM protein (MLP) | ||
HCM, DCM | AD | LDB3 | Cypher/ZASP | Myofibrillar myopathy and distal myopathy | |
HCM, DCM | AD | VCL | Metavinculin | ||
DCM, RCM | AD | DES | Desmin | Desmin-related myopathy (DRM) | |
DCM | AD | CRYAB | Alpha B-crystallin | Desmin-related myopathy (DRM) | |
DCM | AD | FHL2 | Four–and–a–half LIM domains 2 (FHL2) | ||
HCM | AD | OBSCN | Obscurin | ||
Sarcolemma | HCM | AD | SCN5A | Sodium channel, Voltage-gated, Type V | |
HCM | AD | CAV3 | Caveolin 3 | Limb-girdle muscular dystrophy, type 1C (LGMD1C) | |
DCM | XR | DMD | Dystrophin | Duchenne (DMD) and Becker (BMD) muscular dystrophy | |
DCM | AD | SAGD | Delta-sarcoglycan | Limb-girdle muscular dystrophy, type 2F (LGMD2F) | |
Nuclear envelope | DCM | AD, AR | LMNA | Lamin A/C | Emery-Dreifuss (EDMD2 and 3) and limb-girdle muscular dystrophy, type 1B (LGMD1B) |
DCM | XR | EMD | Emerin | Emery-Dreifuss (EDMD) and Limb-girdle muscular dystrophy | |
DCM | AD | TMPO | Thymopoietin | ||
Nuclear transcription factor | DCM | AD | EYA4 | Eyes absent 4 (EYA4) | |
Mitochondria/lysosome | HCM-like | AD | PRKAG2 | AMP-activated protein kinase g-2- subunit | |
HCM-like | AR | LAMP2 | Lysosome-associated membrane 2 | Danon’s disease | |
HCM-like | AR | GAA | Alpha–1,4–glycosidase | Pompe disease | |
HCM–like | XR | GLA | Alpha–galactosidase A | ||
DCM | AD | ABCC9 | ATP-sensitive K channel | ||
DCM | AR | CPT2 | Carnitine palmitoyl transferase II | ||
DCM | XR | TAZ | Tafazzin | Barth syndrome |
# AD; Autosomal Dominant, AR; Autosomal Recessive, XR; X-linked Recessive