AMPK Methods and Protocols

Table 1
Reported humanPRKAG2variants linked to a cardiomyopathy phenotype

Variant Onset

Number of families/

patients Key features Reference

p.Arg302Gln Adult Commonest

described

PRKAG2

mutation—~135

patients

Common: short PR interval,

ventricular pre-excitation

(VPE), and frequent episodes

of supraventricular tachycardia

(SVT); bradycardia due to

sinus node dysfunction;

conduction abnormalities

including RBBB and AV

block; high incidence of

permanent pacemaker

implantation

Variable: LVH ranges from

absent [29] to severe [56]

Infrequent/rarely described:

cardiac transplantation, SCD

[12, 13, 24, 27,

28, 29, 56,

57, 65, 66,

67, 76, 78,

87]

p.Asn488Ile Pediatric-

adult

Second commonest

described—~40

patients

Common: moderate,

progressive LVH (70% of

patients) and VPE (58%)

Variable: SVT (30%) and

pacemaker implantation

(30%), seven patients (15%)

with extracardiac features

including myalgia, proximal

myopathy, and poorly

controlled seizures

Infrequent/rarely described:

SCD, thromboembolic stroke

[13, 24]

p.Gly100Ser Adult Single family of 12 Severe AV block, sinus node

dysfunction, VPE, and SVT;

LVH (8/12) progressing to

end-stage heart failure in 4/12

patients

[88]

p.Ser333Pro Adult Family of three VPE (2/3 cases); conduction

system disease with LBBB and

AV block (2/3 cases)

Moderate asymmetric LVH

Muscle pain and exercise

intolerance, with skeletal

muscle glycogenosis

[67]

p.Val336Ala Pediatric-

Adult

Family of four Severe conduction system

disease (AV block and LBBB)

VPE and paroxysmal AF (atrial

fibrillation), with one SCD

Progressive LVH with end-stage

heart failure by middle age

[67]

(continued)

584 Arash Yavari et al.