Brief Report: Cardiomyopathy and Exercise Intolerance in Muscle Glycogen Storage Disease 0  

Oleh:

Kollberg, Gittan ; Tulinius, Mar ; Gilljam, Thomas ; Ostman-Smith, Ingegerd ; Forsander, Gun ; Jotorp, Peter ; Oldfors, Anders ; Holme, Elisabeth

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 357 no. 15 (Oct. 2007), page 1507.

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2007.05 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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 (R462ter) 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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