Myofibrillar myopathy due to dominant LMNA LMNA mutations: A report of 2 cases

Dhawan Priya S.; Liewluck Teerin; Knapik Joseph; Milone Margherita

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Myofibrillar myopathy due to dominant LMNA LMNA mutations: A report of 2 cases

机译：肌原纤维肌病因占优势LMNA LMNA突变：2例报告

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来源
《Muscle and Nerve》 |2018年第5期|共3页
作者
Dhawan Priya S.; Liewluck Teerin; Knapik Joseph; Milone Margherita;
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作者单位

Department of NeurologyMayo ClinicRochester Minnesota USA;

Department of NeurologyMayo ClinicRochester Minnesota USA;

Department of Neurology and RehabilitationSaint Mary's Regional Medical CenterEnid Oklahoma USA;

Department of NeurologyMayo ClinicRochester Minnesota USA;

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原文格式 PDF
正文语种 eng
中图分类人体生理学;
关键词
ICD; laminopathy; LMNA; muscular dystrophy; myofibrillar myopathy; vacuoles;

机译：ICD;层状病变;LMNA;肌营养不良;myofibrillar肌病;真空疱疹;

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专利

1. Myofibrillar myopathy due to dominant LMNA LMNA mutations: A report of 2 cases [J] . Dhawan Priya S., Liewluck Teerin, Knapik Joseph, Muscle and Nerve . 2018,第5期

机译：肌原纤维肌病因占优势LMNA LMNA突变：2例报告
2. Diffuse, mottled hyperpigmentation and mutations in LMNA LMNA LMNA gene in a 5‐year‐old boy, his mother, and his grandmother: Atypical progeroid syndrome [J] . Schultz Brittney, Miller Daniel D., Maguiness Sheilagh Pediatric dermatology . 2019,第6期

机译：在5岁的男孩，他的母亲和他的祖母中，LMNA LMNA LMNA基因的弥漫性，斑驳的高度沉降和突变在一个5岁的男孩和他的祖母：非典型葡萄树脂综合征
3. Increased susceptibility to oxidative stress‐ and ultraviolet A‐induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA LMNA LMNA mutation [J] . Motegi Sei‐ichiro, Uchiyama Akihiko, Yamada Kazuya, Experimental dermatology . 2016,第Suppla4期

机译：与LMNA LMNA LMNA突变的非典型突发综合征/非典型Werner综合征中成纤维细胞中的氧化应激和紫外线诱导细胞凋亡的易感性增加
4. Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy [C] . Serguei Kozlov, Leslie Mounkes, Dedra Cutler, Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：小鼠LMNA基因中的突变导致普鲁比亚，肌肉营养不良和心肌病
5. The effect of LMNA mutations on the lamin Ig-fold structure and muscle gene expression. [D] . Shrestha, Om Kumar. 2012

机译：LMNA突变对lamin Ig折叠结构和肌肉基因表达的影响。
6. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy [O] . S Benedetti, E Bertini, S Iannaccone, 2005

机译：显性LMNA突变可引起合并的肌营养不良症和周围神经病变
7. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy [O] . Benedetti, S, Bertini, E, Iannaccone, S, 2005

机译：显性LMNA突变可引起合并的肌营养不良症和周围神经病变

Myofibrillar myopathy due to dominant LMNA LMNA mutations: A report of 2 cases

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