Table 1 Genes associated with common forms of cardiomyopathy with relation to skeletal muscle disease.

From: Genomics of pediatric cardiomyopathy

Genes	Cardiac phenotype	Syndromes/Skeletal myopathy phenotypes
ABCC9	DCM	Cantú syndrome Intellectual disability and myopathy syndrome
ACTA1	DCM^156,157	Actin myopathy, nemaline myopathy, progressive scapulohumeroperoneal distal myopathy
ACTC1	DCM, HCM, NCM	Distal arthrogryposis
ACTN2	DCM, HCM, NCM	Distal myopathy, multiple structured core disease, myofibrillar myopathy
ANKRD1	ACM, DCM, HCM¹⁵⁸	Congenital myasthenic syndrome, muscular dystrophy
BAG3	DCM	Limb-girdle muscular dystrophy, myofibrillar myopathy
CAV3	HCM	Distal myopathy, Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, rippling muscle disease
CRYAB	DCM	Myofibrillar myopathy
CSRP3	DCM, HCM, NCM Endomyocardial fibroelastosis	Limb-girdle muscular dystrophy^159,160
DES	ACM, DCM, NCM,¹⁶¹ RCM¹⁶²	Myofibrillar myopathy, limb-girdle muscular dystrophy¹⁵⁹
DMD	DCM	Duchenne muscular dystrophy, Becker muscular dystrophy
EMD	DCM	X-linked Emery-Dreifuss muscular dystrophy
FLNC	ACM, DCM,¹⁶³ HCM, RCM	Distal myopathy, myofibrillar myopathy
LAMP2	DCM, HCM, NCM	Danon disease X-linked myopathy with excessive autophagy
LDB3	ACM, DCM	Myofibrillar myopathy
LMNA	ACM, DCM	Cap myopathy, Emery-Dreifuss muscular dystrophy, nemaline myopathy
MYBPC3	DCM, HCM, NCM	Myosin myopathy
MYH7	HCM, NCM	Congenital myopathy, distal myopathy
MYL2	DCM, HCM, RCM	Myofibrillar myopathy
MYPN	DCM, HCM, RCM	Cap myopathy, myopathy with hanging big toe, nemaline myopathy
NEBL	DCM, HCM Endomyocardial fibroelastosis	Limb-girdle muscular dystrophy
SGCD	DCM	Limb-girdle muscular dystrophy
TAZ	DCM, LVNC Endomyocardial fibroelastosis	Barth syndrome Myopathies
TCAP	ACM, DCM, HCM	Distal myopathy, limb-girdle muscular dystrophy
TNNI3	DCM, HCM, RCM	Distal arthrogryposis
TNNT2	DCM, HCM, RCM	Distal arthrogryposis
TPM1	DCM, HCM, LVNC	Nemaline myopathy
TTN	DCM, HCM	Hereditary myopathy with early respiratory failure, Salih myopathy, tardive tibial muscular dystrophy
TTR	Hereditary amyloid cardiomyopathy	Amyloid neuropathies

References provided for phenotypes not found in GeneCards or Online Inheritance of Man^{156,157,158,159,160,161,162,163}.
DCM dilated cardiomyopathy, HCM hypertrophic cardiomyopathy, NCM noncompaction cardiomyopathy, ACM arrhythmogenic cardiomyopathy.

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Table 1 Genes associated with common forms of cardiomyopathy with relation to skeletal muscle disease.

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