Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
J. Clin. Invest. Michael Arad, et al. 109:357 doi:10.1172/JCI14571 [
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Figure 2Histopathology of left ventricular sections obtained from individuals with
PRKAG2 mutations. (
a) Longitudinal section of left ventricular myocardium from a 26-year-old individual with
PRKAG2 mutation Asn488Ile who died suddenly. Note vacuolated myocytes, and lack of myofiber disarray or fibrosis (H&E; bar = 100 μm). (
b) High-power magnification of an endomyocardial biopsy (H&E; bar = 100 μm) from a 39-year-old individual with
PRKAG2 mutation Thr400Asn shows profound vacuolization (arrows). (
c) Homogenous inclusions within vacuoles (arrows and inset) stained positive with PAS are mostly diastase-resistant. (
d) Electron micrograph (uranyl acetate and lead citrate) of a sample described in
a (bar = 1 μm). Note the large, irregular sarcoplasmic inclusion (arrows) within a large vacuole, and normal-appearing sarcomeres (arrowhead). (
e) Higher magnification (bar = 1 μm) demonstrates that the inclusion is composed of a central core of homogenous, electron-dense droplets surrounded by osmiophilic granular and fibrillar material (star).
