Article
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.
Neuromuscular disorders : NMD - 1 Feb 2012
Sukigara Sayuri, Liang Wen-Chen, Komaki Hirofumi, Fukuda Tokiko, Miyamoto Takeshi, Saito Takashi, Saito Yoshiaki, Nakagawa Eiji, Sugai Kenji, Hayashi Yukiko K, Sugie Hideo, Sasaki Masayuki, Nishino Ichizo
Abstract excerpt
Muscle glycogen storage disease 0 (GSD0) is caused by glycogen depletion in skeletal and cardiac muscles due to deficiency of glycogen synthase 1 (GYS1), which is encoded by the GYS1 gene. Only two families with this disease have been identified. We report a new muscle GSD0 patient, a Japanese girl, who had been suffering from recurrent attacks of exertional syncope accompanied by muscle weakness and pain since...
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