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伴室间隔缺损的Miyoshi肌病的临床、影像和基因一例报道

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摘要 Miyoshi肌病（miyoshi myopathy,MM）和肢带肌营养不良2B型（limb girdle muscular dystrophy type 2B,LGMD2B）的致病基因均为位于染色体2p13的DYSF基因[1]。DYSF基因的cDNA长为69 000,编码产物为dysferlin蛋白[2]。经典的MM主要表现为双下肢远端的肌肉无力和萎缩,后期可以出现双下肢近端的无力,但是伴有先天性室间隔缺损、心脏传导阻滞以及交替性外斜视的MM国内外均未见报道,现报道1例发现Dysferlin蛋白新突变并伴有先天性室间隔缺损、心脏传导阻滞以及交替性外斜视的MM。
作者 姚生 韩晓琛 戚晓昆 段枫
机构地区 北京海军总医院神经内科
出处 《中国神经免疫学和神经病学杂志》 CAS 北大核心 2014年第6期449-451,共3页 Chinese Journal of Neuroimmunology and Neurology
关键词 dysferlin蛋白缺陷 临床特点 基因突变
分类号 R746.9 [医药卫生—神经病学与精神病学]
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参考文献7

  • 1Kerr JP, Ziman AP, Mueller AL, et al. Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule mem- brane[J]. Proe Natl Acad Sci U S A, 2013, 110(51):20831 20836.
  • 2孙顺昌,樊绮诗,吴华成,France Leturcq,张炳峰,于文,Nathalie Deburgrave,刘明,宋永建.Dysferlin缺陷:肢带2B型肌营养不良与Miyoshi肌病的致病原因[J].中华医学遗传学杂志,2004,21(2):128-131. 被引量：7
  • 3Kesper K, Kornblum C, Reimann J, et al. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole- body 3. 0-T magnetic resonance imaging study [J]. Acta Neurol Scand, 2009, 120(2) 111-118.
  • 4Zhao Z, Hu J, Sakiyama Y, et al. DYSF mutation analysis ina group of Chinese patients with dysferlinopathy [J]. Clin Neurol Neurosurg, 2013, 115(8) : 1234-1237.
  • 5Chase TH, Cox GA, Burzenski L, et al. Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B[J]. Am J Pathol, 2009, 175(6): 2299-2308.
  • 6Wenzel K, Geier C, Qadri F, et al. Dysfunction of dysferlin- deficient hearts[J]. J Mol Med, 2007, 85:1203-1214.
  • 7Choi ER, Park SJ, Choe YH, et al. Early detection of cardiac involvement in Miyoshi myopathy= 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic reso- nance[J]. J Cardiovasc Magn Reson, 2010, 12(1): 31.

二级参考文献14

  • 1Bushby KM. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet, 1999, 8∶1875-1882.
  • 2Illa I, Serrano-Munuera C, Gallardo E, et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol, 2001, 49∶130-134.
  • 3Nicholson LV, Davison K, Falkous G, et al. Dystrophin in skeletal muscle: Western blot analysis using a monoclonal antibody. J Neurol Sci, 1989, 94∶125-136.
  • 4Bushby KM. Making sense of the limb-girdle muscular dystrophies. Brain, 1999, 122∶1403-1420.
  • 5Vainzof M, Moreira ES, Suzuki OT, et al. Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta, 2002, 1588∶33-40.
  • 6Passos-Bueno MR, Vainzof M, Moreira ES, et al. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet, 1999, 82∶392-398.
  • 7Bushby KM. Diagnostic criteria for the limb-girdle dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromuscul Disord, 1995, 5∶71-74.
  • 8Anderson LV, Davison K, Moss JA, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet, 1999, 8∶855-861.
  • 9Weiler T, Greenberg CR, Nylen E, et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet, 1996, 59∶872-878.
  • 10Bejaoui K, Hirabayashi K, Hentati F, et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology, 1995, 45∶768-772.

共引文献6

中国神经免疫学和神经病学杂志
2014年 第6期

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