[1]刘 芳,孙保东,刘冬舟.肢带型肌营养不良2B型误诊为多发性肌炎1例[J].医学信息,2019,32(02):189-190.[doi:10.3969/j.issn.1006-1959.2019.02.059]
点击复制

肢带型肌营养不良2B型误诊为多发性肌炎1例()
分享到:

医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
32卷
期数:
2019年02期
页码:
189-190
栏目:
出版日期:
2019-01-15

文章信息/Info

文章编号:
1006-1959(2019)02-0189-02
作者:
刘 芳孙保东刘冬舟
暨南大学第二临床医学院附属深圳市人民医院风湿免疫科,广东 深圳 518001
关键词:
肢带型肌营养不良2B型多发性肌炎误诊
分类号:
R746
DOI:
10.3969/j.issn.1006-1959.2019.02.059
文献标志码:
B

参考文献/References:

[1]张莹,李懋,张小兰.Dysferlinopathy患者临床表现与基因突变分析[J].北京医学,2015,37(5):415-418.
[2]Takahashi T,Aoki M,Suzuki N,et al.Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B[J].Journal of Neurology Neurosurgery & Psychiatry,2013,84(4):433-439.
[3]李娜,刘亚玲,李秋香.肢带型肌营养不良2B型与多发性肌炎的临床及病理鉴别诊断[J].中华神经科杂志,2009,42(9):596-599.
[4]Aoki M,Liu J,Richard I,et al.Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy[J].Neurology,2001,57(2):271-278.
[5]Pramono ZA,Lai PS,Tan CL,et al.Identification and characterization of a novelhuman dysferlintranscript: dysferlin_v1[J].Human genetics,2006,120(3):410-419.
[6]Zhao Z,Hu J,Sakiyama Y,et al.DYSF mutation analysis in a group of Chinese patients with dysferlinopathy[J].Clinical neurology and neurosurgery,2013,115(8):1234-1237.
[7]Diazmanera J,Fernandeztorron R,Llauger J,et al.Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials[J]. J Neurol Neurosurg Psychiatry,2018,89(10):1071-1081.
[8]羽珍君,廖红,张雪梅.两个肢带型肌营养不良2B型家系DYSF基因的突变分析[J].中华医学遗传学杂志,2018,35(4):498-501.
[9]尹小玲,张宁,李秋香.肢带型肌营养不良2B型七例临床与病理分析[J].中华医师进修杂志,2014,37(28):7-9.
[10]Patel NJ,Van Dyke KW,Espinoza LR.Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy[J].The American Journal of the Medical Sciences,2017,353(5):484-491.
[11]Sreetama SC,Chandra G,Van der Meulen JH,et al.Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit[J].Molecular therapy: the Journal of the American Society of Gene Therapy,2018,26(9):2231-2242.
[12]Rodrigues M,Yokota T.An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases[J].Methods in Molecular Biology,2018(1828):31-55.
[13]Nguyen K,Bassez G,Krahn M,et al.Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes[J].Archives of neurology,2007,64(8):1176-1182.

相似文献/References:

[1]熊 倩,江 涛.多发性肌炎、皮肌炎合并肺间质性肺炎的诊治[J].医学信息,2020,33(06):43.[doi:10.3969/j.issn.1006-1959.2020.06.013]
 XIONG Qian,JIANG Tao.Diagnosis and Treatment of Polymyositis and Dermatomyositis with Pulmonary Interstitial Pneumonia[J].Journal of Medical Information,2020,33(02):43.[doi:10.3969/j.issn.1006-1959.2020.06.013]

更新日期/Last Update: 2019-02-15