Laforêt Pascal, Richard Pascale, Said Mina Ait, Romero Norma Beatriz, Lacene Emmanuelle, Leroy Jean-Paul, Baussan Christiane, Hogrel Jean-Yves, Lavergne Thomas, Wahbi Karim, Hainque Bernard, Duboc Denis
Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Neuromuscul Disord. 2006 Mar;16(3):178-82. doi: 10.1016/j.nmd.2005.12.004. Epub 2006 Feb 17.
Mutations in the gene encoding the gamma2 subunit of AMP-activated protein kinase (PRKAG2) cause familial cardiac hypertrophy and electrophysiological abnormalities, with glycogen accumulation in the heart of affected patients. The authors describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis. Considering those results, PRKAG2 gene could be a potential candidate for unexplained muscle glycogenosis associated with cardiac abnormalities.
编码AMP激活蛋白激酶（PRKAG2）γ2亚基的基因突变会导致家族性心脏肥大和电生理异常，患病患者心脏中会出现糖原积累。作者描述了一名38岁男性，其携带一种新的杂合PRKAG2突变（Ser548Pro），表现为肥厚型心肌病、严重传导系统异常和骨骼肌糖原贮积症。考虑到这些结果，PRKAG2基因可能是与心脏异常相关的不明原因肌肉糖原贮积症的潜在候选基因。
