[肌管性肌病。病例报告及文献综述]
[Myotubular myopathy. Case report and review of the literature].
作者信息
Kovács S Krisztián, Korcsik József, Szabó Hajnalka, Bódi István, Katona Márta, Bereg Edit, Endreffy Emoke, Túri Sándor, Hortobágyi Tibor, Sztriha László
机构信息
Szegedi Tudományegyetem, Altalános Orvostudományi Kar, Pathológiai Intézet.
出版信息
Orv Hetil. 2007 Sep 16;148(37):1757-62. doi: 10.1556/OH.2007.28054.
The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome. The patient presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis and respiratory insufficiency. The biopsy showed the appearance of myotubular myopathy. The diagnosis was further confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.
本文呈现了匈牙利首例肌管性肌病病例报告，该病是一种与X染色体相关的隐性先天性疾病。该患者出生时即表现出严重的肌张力减退、自发运动无力、关节挛缩和呼吸功能不全。活检显示出肌管性肌病的表现。基因分析发现肌管素编码基因MTM1发生了一种新的移码突变（1314 - 1315insT），进一步证实了诊断。
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