Département de Neurologie, Hôpital Civil, BP426, 67091 Strasbourg, France.
Neuromuscul Disord. 2010 Feb;20(2):125-7. doi: 10.1016/j.nmd.2009.11.004. Epub 2010 Jan 18.
Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene encoding the alpha(M) subunit of PHK. Only 5 patients with molecular defects in the X-linked PHKA1 gene have been described until now, and they all presented with exercise intolerance. Here, we report a patient with a new mutation in the PHKA1 gene who presented with PHK deficiency, cognitive impairment, but no overt myopathy. This report supports the concept that PHK deficiency is a mild metabolic myopathy and suggests that PHK mutations may interfere with normal brain function.
肌磷酸化酶 b 激酶（PHK）缺乏症（糖原贮积症 VIII 型）是一种由 PHKA1 基因突变引起的罕见疾病，该基因编码 PHK 的α（M）亚基。到目前为止，仅描述了 5 例 X 连锁 PHKA1 基因突变的患者，他们均表现为运动不耐受。在此，我们报告了一例 PHKA1 基因突变患者，其表现为 PHK 缺乏、认知障碍，但无明显肌病。本报告支持 PHK 缺乏症是一种轻度代谢性肌病的概念，并提示 PHK 突变可能干扰正常的脑功能。
