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隐性遗传性包涵体肌病一例随访 被引量:1

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摘要 临床资料患者男性,39岁,9年前出现双足尖抬举费力,能缓慢独立上楼,双小腿肌肉萎缩,上肢不能持重物,手指抓物费力;6年前足尖不能抬起,下蹲站起困难,上楼需扶持,并逐渐加重,平地行走作摇摆状。父母为近亲结婚,其弟弟体健,家族中无类似发病者。于温州医学院附属第二医院就诊查CK2210 IU/L(正常值25~195 IU/L),肌电图示肌源性损害,拟诊“肌肉疾病:肌炎可能”,予激素及B族维生素等治疗,症状无改善。
出处 《中华神经科杂志》 CAS CSCD 北大核心 2008年第12期869-870,共2页 Chinese Journal of Neurology
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参考文献7

  • 1王朝霞,高云鹰,张英,卜定方,袁云.Nonaka肌病的GNE基因突变研究[J].中风与神经疾病杂志,2006,23(2):201-203. 被引量:7
  • 2中华医学会神经病学分会神经肌肉病学组.包涵体肌炎的诊断标准[J].中华神经科杂志,2003,36(1):65-66. 被引量:24
  • 3高云鹰,王朝霞,张巍,袁云.遗传性包涵体肌病[J].中国现代神经疾病杂志,2005,5(6):409-411. 被引量:3
  • 4Argov Z, Eisenberg I, Grabov-Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 2003, 60: 1519-1523.
  • 5焉传祝,李大年,吴金玲,刘淑萍,谭东,单培彦,徐广润.有镶边空泡的远端肌病九例临床和病理研究[J].中华神经科杂志,2003,36(2):138-141. 被引量:22
  • 6Eisenberg I, Avidan N, Potikha T, et al. The UDP-N- acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is mutated in recessive hereditary inclusion body myopathy. Nat Genet, 2001,29: 83-87.
  • 7Sparks S, Rakocevic G, Joe G, et al. Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol, 2007, 7: 3.

二级参考文献40

  • 1孙琦,张平.包涵体肌炎(附1例报告并文献复习)[J].临床神经病学杂志,1996,9(4):240-241. 被引量:7
  • 2[1]Askanas V, Engel WK. New advances in inclusion-body myositis.Curr Opin Rheumatol, 1993, 5:732-741.
  • 3[2]Argov Z, Eisenberg I, Grabov-Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 2003,60:1519-1523.
  • 4[3]Tomimitsu H, Shimizu J, Ishikawa K, et al. Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.Neurology, 2004, 62:1607-1610.
  • 5[4]Kumamoto T, Ito T, Horinouchi H, et al. Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles. Muscle Nerve, 2000, 23:1686-1693.
  • 6[7]Uyama E, Uchino M, Chateau D, et al. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscul Disord, 1998, 8:119-125.
  • 7[8]Minami N, Ikesoe K, Kuroda H, et al. Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. NeuromusculDisord, 2001, 11:699-702.
  • 8[9]van der Sluijs BM, ter Laak HJ, Scheffer H, et al. Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. J Neurol Neurosurg Psychiatry, 2004, 75:1499-1501.
  • 9[10]on Tell D, Bruder CE, Anderson LV, et al. Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. Neurogenetics,2003, 4:173-177.
  • 10[11]Mahjneh I, Lamminen AE, Udd B, et al. Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. Acta Neurol Scand, 2004, 110:87-93.

共引文献46

同被引文献13

  • 1丁卫江,曾国勇,邓丽影,王春芝,舒毅.有镶边空泡远端肌病合并周围神经病变一例[J].中华神经科杂志,2007,40(5):333-334. 被引量:4
  • 2Nonaka I, Sunohara N, Ishiura S, et al. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation[J]. J Neurol Sci, 1981, 51: 141-55.
  • 3Argov Z, Yarom R. "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews [J~. J Neurol Sci, 1984, 64: 33-43.
  • 4Eisenberg I, Avidan N, Potikha T, et al. The UDP-N- acetylglucosamine 2-epimerase/N-acetyl- mannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy [J]. Nat Genet, 2001, 29: 83-7.
  • 5Hinderlich S, Salama I, Eisenberg I, et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy [J]. Neurology, 2002, 59(11): 1689-93.
  • 6Huizing M, Krasnewich DM. Hereditary inclusion body myopathy: a decade of progress [J]. Biochim Biophys Acta, 2009, 1792(9): 881-7.
  • 7Nonaka I, Murakami N, Suzuki Y, et al. Distal myopathy with rimmed vacuoles[J]. Neuromuscul Disord, 1998, 8: 333-7.
  • 8Argov Z, Mitrani-Rosenbaum S. The hereditary inclusion body myopathy enigma and its future therapy[J]. Neurotherapeutics, 2008, 5(4): 633-7.
  • 9Jay CM, Levonyak N, Nemunaitis G, et al. Hereditary inclusion body myopathy (HIBM2)[J]. Gene Regul Syst Biol, 2009, 3: 181-90.
  • 10Broccolini A, Gidaro T, Morosetti R, et al. Hereditary inclusion- body myopathy: clues on pathogenesis and possible therapy [J]. Muscle Nerve, 2009, 40(3): 340-9.

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