Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0 by Kollberg Gittan, Tulinius Már, Gilljam Thomas, Ostman-Smith Ingegerd, Forsander Gun, Jotorp Peter, Oldfors Anders, Holme Elisabeth in The New England journal of medicine (2007).

[PMID: 17928598] PubMed


Storage of glycogen is essential for glucose homeostasis and for energy supply during bursts of activity and sustained muscle work. We describe three siblings with profound muscle and heart glycogen deficiency caused by a homozygous stop mutation (R462-->ter) in the muscle glycogen synthase gene. The oldest brother died from sudden cardiac arrest at the age of 10.5 years. Two years later, an 11-year-old brother showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising; a 2-year-old sister had no symptoms. In muscle-biopsy specimens obtained from the two younger siblings, there was lack of glycogen, predominance of oxidative fibers, and mitochondrial proliferation. Glucose tolerance was normal.

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