[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy].
[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy].
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[LGMD2A（钙蛋白酶病）临床表现为三好远端肌病一例]。
DOI：
10.5692/clinicalneurol.48.651
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发表时间：
2008
期刊：
影响因子：
--
通讯作者：
F. Kanda
中科院分区：
文献类型：
--
作者：
T. Shirafuji;Y. Otsuka;Hiroshi Kobessho;N. Minami;Y. Hayashi;I. Nishino;F. Kanda
我们报告了一个23岁的女性远端肌病和高升高的血清肌酸激酶（CK）引起的calpain病。虽然肌肉无力不明显，但肌肉CT扫描显示腓肠肌内侧头有脂肪组织代替。臀大肌和股二头肌也受到较小程度的影响，但腓肠肌外侧头得以保留。对肱二头肌活检标本的组织学研究显示纤维大小有明显变化，并有少量坏死或再生纤维。液泡内无边缘液泡或分叶纤维。虽然临床特征提示三好氏远端肌病，但calpain 3基因分析显示5号内含子c.802-9G > a突变，10号外显子c.1319G > a （p.a g440gln）突变。患者肌肉的微型多重免疫印迹（MMW）未发现calpain3 （p94）和calpain330kda片段带，免疫印迹未发现任何异常。有三吉远端肌病临床表现的患者也应考虑肌痛病。
We reported a 23-year-old woman with distal myopathy and highly elevated serum creatine kinase (CK) caused by calpainopathy. Although muscle weakness was not evident, a muscle CT scan revealed replacement by adipose tissue in the medial head of the gastrocnemius. The gluteus maximus and biceps femoris were also affected to a lesser degree, but the lateral head of the gastrocnemius was preserved. A histological study of a biopsied specimen of the biceps brachii revealed obvious variation in fiber size and a few necrotic or regenerating fibers. Rimmed vacuoles or lobulated fibers were absent in vacuoles. Although the clinical features suggested Miyoshi's distal myopathy, gene analysis of calpain 3 revealed a c.802-9G > A mutation in intron 5 and a c.1319G > A (p.Arg440Gln) in exon 10. Mini-multiplex Western Blotting (MMW) of the patient's muscle showed no band in calpain 3 (p94) and calpain 3 30 kDa fragments and immunoblotting did not reveal any dysferlin abnormalities. Calpainopathy should be also considered in patients with clinical manifestations of Miyoshi distal myopathy.