Skip to main content

Table 2 Genetic mutations associated with RCM

From: Clinical genetic testing in four highly suspected pediatric restrictive cardiomyopathy cases

Gene loci

Gene name

ACTC1 [29]

α-Cardiac actin

BAG3 [30]

BCL2-associated athanogene 3

CRYAB [31]

αB-crystallin

DES [32]

Desmin

GLA

α-Galactosidase

MYH7 [11]

β-Myosin heavy chain 7

MYL2

Myosin regulatory light chain 2,slow

MYL3

Myosin light chain 3, slow

MYPN [35]

Myopalladin

TNNI3 [1, 6, 34]

Cardiac troponin I, type 3

TNNT2 [1]

Cardiac troponin T, type 2

TPM1

α-Tropomyosin 1

TTN [35]

Titin

TTR

Transthyretin

MYBPC3 [23]

cMyBP-C

FLNC [24, 25]

filamin C

MYPN [26]

myopalladin

LMNA [28]

Lamin A

ABCC9 [27]

Sur2A