% 0期刊文章%弗朗西斯卡Magri %一个罗伯托·德尔·博% Francesco Fortunato %玛丽亚葛拉齐亚德安杰洛%亚历山德拉Govoni %囊Roberta %西蒙娜Brajkovic %普螺旋器% Nereo Bresolin %一个Giacomo Comi Maurizio Moggio % % T LAMA2基因突变的扩大范围:从1先天性肌肉萎缩症、肢带肌萎缩症2 r (P07.036) % D J神经病学2013% % P P07.036-P07.036 % V 80% N % X 7补充目的:扩大LAMA2基因突变的临床和分子光谱,表明成年的分类情况下作为一个单独的LGMD形式,应定义为LGMD2R。首页背景:LAMA2突变基因,编码laminin-α2,通常负责先天性肌肉distrophy 1 (CMD1A)。几例呈现温和肢带肌萎缩症(LGMD)描述了表型和通常表现为肌肉参与早期发病,部分laminin-α2缺乏免疫印迹分析,白质在脑部MRI异常。设计/方法:我们研究5 CMD病人和2 LGMD主题显示laminin-α2缺乏免疫印迹分析。所有渊源者进行了脑磁共振神经系统检查,和肌肉活检。通过直接测序分析LAMA2基因的外显子和内含子边界进行所有的病人。结果:我们发现突变4 CMD和1 LGMD病人。五个突变是小说。CMD患者表型进行以下突变:p。Gly3067CysfsX5 IVS54 + 5 g > C、p。Pro2693ValfsX12, p。Ser2437AspfsX11 p.Arg744X。他们有古典表型和laminin-α2缺席在免疫印迹分析。LGMD病人进行复合杂合现象p.Leu2248TrpfsX23 / p。His2848Gln并显示轻微的肌肉参与发病年龄在30年的晚些时候,没有肌腱收缩,大脑白质的显著改变。 In the second LGMD patient, a heterozygous missense substitution (p.Gly1584Ser) was found. Interestingly only LGMD patients carried missense mutations.CONCLUSIONS: Our data confirm the existence of a wide clinical spectrum associated with LAMA2 gene mutations which is a continuum ranging from typical and late-onset CMD to childhood and adulthood LGMD. LAMA2 study should be considered as an essential part in the diagnostic work-up of undiagnosed LGMD patients, especially if other suggestive features, such as brain white matter abnormalities, are present. LGMD forms associated with LAMA2 mutations should be considered as a separate new form of LGMD, which should be classified as LGMD2R.Disclosure: Dr. Magri has nothing to disclose. Dr. Del Bo has nothing to disclose. Dr. Fortunato has nothing to disclose. Dr. D'Angelo has nothing to disclose. Dr. Govoni has nothing to disclose. Dr. Roberta has nothing to disclose. Dr. Brajkovic has nothing to disclose. Dr. Corti has nothing to disclose. Dr. Bresolin has nothing to disclose. Dr. Moggio has nothing to disclose. Dr. Comi has received research support from Telethon Italy and SMA Europe.Thursday, March 21 2013, 2:00 pm-7:00 pm %U

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