伴有眼外肌麻痹的波纹状肌病中小窝蛋白-3基因的新型纯合突变。
Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis.
作者信息
Ueyama H, Horinouchi H, Obayashi K, Hashinaga M, Okazaki T, Kumamoto T
机构信息
Division of Neurology and Neuromuscular Disorders, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Hasama-machi, Yufu City, Oita 879-5593, Japan.
出版信息
Neuromuscul Disord. 2007 Jul;17(7):558-61. doi: 10.1016/j.nmd.2007.03.009. Epub 2007 May 29.
We describe a 39-year-old Japanese man with rippling muscle disease who carried a novel homozygous mutation (Trp70 to a stop codon) in the caveolin-3 gene. The patient also had extraocular muscle paresis showing atrophy of the extraocular muscles on orbital MRI. The involvement of the extraocular muscles of patients with caveolinopathy is discussed.
我们描述了一名患有波纹肌病的39岁日本男性，其在小窝蛋白-3基因中携带一种新的纯合突变（Trp70突变为终止密码子）。该患者还存在眼外肌麻痹，眼眶MRI显示眼外肌萎缩。本文讨论了小窝蛋白病患者眼外肌受累情况。
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