Paradas C, Fernandez-Cadenas I, Gallardo E, Lligé D, Arenas J, Illa I, Andreu A L
Unidad de Neurología, Hospital de Zafra, Badajoz, Spain.
Neurosci Lett. 2005 Dec 31;391(1-2):28-31. doi: 10.1016/j.neulet.2005.08.026. Epub 2005 Sep 9.
We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P). Four individuals who had the same genotype for PYGM, showed a wide variability in the presentation of the clinical phenotype, including one patient with a restrictive respiratory pattern, which is unusual in McArdle's disease. Moreover, these patients were studied for the insertion/deletion (I/D) trait in the angiotensin converting enzyme (ACE) which has been suggested to be a strong modulator of severity in McArdle's disease. Our results indicate no association of the I/D ACE trait in this family, suggesting that other factors would be more relevant in determining the severity of the clinical presentation.
我们报告了一个患有肌肉糖原磷酸化酶（PYGM）缺乏症（麦克尔迪氏病）的西班牙家族，该家族携带一种新的复合基因型（A659D/L586P）。四名具有相同PYGM基因型的个体，其临床表型表现出很大差异，其中一名患者具有限制性呼吸模式，这在麦克尔迪氏病中并不常见。此外，对这些患者进行了血管紧张素转换酶（ACE）插入/缺失（I/D）性状研究，该性状被认为是麦克尔迪氏病严重程度的强调节因子。我们的结果表明，该家族中I/D ACE性状不存在关联，这表明其他因素在决定临床表现的严重程度方面可能更具相关性。
