Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation

Huynh William; Davis Mark R.

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Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation

机译：面部弱点和眼睑皮瓣：从新型基因突变扩大伯格伦姆肌病的临床异质性

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来源
《Muscle and Nerve》 |2017年第1期|共2页
作者
Huynh William; Davis Mark R.;
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作者单位

Univ Sydney Brain &

Mind Ctr Sydney NSW Australia;

PathWest Dept Diagnost Genom Nedlands WA Australia;

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原文格式 PDF
正文语种 eng
中图分类人体生理学;
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1. Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation [J] . Huynh William, Davis Mark R. Muscle and Nerve . 2017,第1期

机译：面部弱点和眼睑皮瓣：从新型基因突变扩大伯格伦姆肌病的临床异质性
2. Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings [J] . Missaglia Sara, Tasca Elisabetta, Angelini Corrado, Molecular genetics and metabolism . 2015,第2a3期

机译：PNPLA2的新型错义突变导致三兄弟姐妹中晚期脂质贮积病伴肌病的晚期发作和临床异质性
3. Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutations [J] . Brown Anna L., Hahn Christopher N., Carmichael Catherine, Blood: The Journal of the American Society of Hematology . 2016,第22期

机译：FPD-AML临床谱中的扩大表型和遗传异质性：生殖系统RUNX1突变携带者的常见特征是淋巴恶性肿瘤和皮肤疾病。
4. A Mitochondrial Transporter SLC25A12 Gene Mutation Is Associated with Inflammatory Myopathy in Dutch Shepherd Dogs [C] . American College of Veterinary Internal Medicine Forum Conference . 2019

机译：线粒体转运蛋白SLC25A12基因突变与荷兰牧羊犬的炎症性肌病有关
5. The clinical and pathological significance of calreticulin gene mutations in chronic myeloproliferative neoplasms [D] . Elgumati, Omyma Mohamed 2015

机译：慢性骨髓增生性肿瘤钙网蛋白基因突变的临床和病理意义
6. A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies [O] . A. D’Amico, F. Fattori, E. Bellacchio, -1

机译：MYH2的一个新的从头错义突变扩大了遗传性肌球蛋白肌病的临床和遗传发现
7. Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity Distrofia muscular congênita com hiperextensibilidade articular distal (Ullrich) e miopatia de Bethlem: heterogeneidade clínica e genética [O] . Umbertina Conti Reed, Lucio Gobbo Ferreira, Enna Cristina Liu, 2005

机译：先天性肌肉萎缩性营养不良和bethlem肌病：临床和遗传异质性先天性肌营养不良伴远端关节过度伸展（Ullrich）和Bethlem肌病：临床和遗传异质性

Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation

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