Department of Pathology and Neuropathology, University Hospital of Vigo, Meixoeiro, Vigo, Spain.
Neuromuscul Disord. 2011 Dec;21(12):817-23. doi: 10.1016/j.nmd.2011.07.002. Epub 2011 Jul 29.
McArdle's disease is the most common muscle glycogenosis. It is caused by the deficiency of myophosphorylase, encoded by the PYGM gene. We studied 123 patients previously diagnosed with McArdle's disease and we identified 20 novel mutations (10 missense and 3 nonsense mutations, 3 small deletions, 2 gross deletions and 2 small insertions). Most patients of this cohort belong to Spanish and French populations. This allowed us to determine the differences between the allelic frequencies of the common mutations R50X and G205S of these populations. The R50X has an allelic frequency in this cohort of about 61.7%, being 68.5% in French and 53.7% in Spanish patients. The G205S had a higher allelic frequency in the Spanish (10.2%) than in the French population (3.2%). Moreover, a clinical study of 91 patients was performed to establish both genotype-phenotype correlation and gender influence in the severity of the disease. We conclude that no genotype-phenotype correlation is evident and that no gender effect is related to the phenotype.
肌磷酸化酶缺乏症（McArdle 病）是最常见的肌肉糖原贮积症。它是由编码肌磷酸化酶的 PYGM 基因突变引起的。我们研究了 123 名先前被诊断为 McArdle 病的患者，发现了 20 种新的突变（10 种错义突变和 3 种无义突变、3 种小缺失、2 种大片段缺失和 2 种小插入）。该队列中的大多数患者属于西班牙和法国人群。这使我们能够确定这些人群中常见突变 R50X 和 G205S 的等位基因频率差异。在该队列中，R50X 的等位基因频率约为 61.7%，法国患者为 68.5%，西班牙患者为 53.7%。G205S 在西班牙患者中的等位基因频率（10.2%）高于法国患者（3.2%）。此外，对 91 名患者进行了临床研究，以确定基因型-表型相关性以及疾病严重程度的性别影响。我们的结论是，没有明显的基因型-表型相关性，也没有与表型相关的性别效应。
