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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (CMH6)

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (CMH6)
PRKAG2
600858
OMIM = Online Mendelian Inheritance of Men
439854
5'-AMP-activated protein kinase subunit gamma-2
7q36.1
very rare
autosomal dominant
mutation in the PRKAG2 gene
glycogen accumulation in the cardiac tissue

We highlight the potential for patients with PRKAG2 mutations to mimic Pompe disease in infancy and the need for confirmatory testing when diagnosing Pompe disease [Torok RD 2017]
Laboratory findings
Symptoms    bradycardia
    cardiac arrhythmia, dysrhythmia
    cardiomyopathy
    cardiomyopathy, hypertrophic
    ECG abnormalities [-]
    nephropathy
    onset, childhood
    onset, infancy
    Wolf-Parkinson-White syndrome