Department of Clinical Neuroscience and Therapeutics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Neuromuscul Disord. 2013 Nov;23(11):911-6. doi: 10.1016/j.nmd.2013.06.003. Epub 2013 Jul 11.
Here we report what is to our knowledge the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. The index case is a 52-year-old man with almost 40years of progressive proximal muscle weakness. High urinary β2 microglobulin, normal serum β2 microglobulin, autophagic vacuoles with sarcolemmal features, and a hemizygous c.164-7T>G mutation in the VMA21 gene were found. His two maternal uncles had similar clinicopathological findings. High urinary β2 microglobulin without obvious renal dysfunction might result from decreased urine acidification in the distal convoluted tubules caused by the VMA21 gene mutation. These findings might prove to be useful as a preliminary marker suggestive of X-linked myopathy with excessive autophagy.
在这里，我们报告了一个据我们所知的首例患有 X 连锁肌病伴过度自噬的日本家族。该家族的先证者是一名 52 岁的男性，他的近端肌肉无力症状已持续近 40 年。研究人员发现该患者具有以下特征：尿β2 微球蛋白升高、血清β2 微球蛋白正常、具有肌膜特征的自噬空泡、VMA21 基因的 c.164-7T>G 杂合突变。他的两位姨父也具有类似的临床病理特征。尿β2 微球蛋白升高而肾功能无明显异常，可能是由于 VMA21 基因突变导致远曲小管酸化功能障碍。这些发现可能有助于作为提示 X 连锁肌病伴过度自噬的初步标志物。
