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A woman by successful IVF and caesarean delivery without complications in autosomal dominant centronuclear myopathy

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摘要 Autosomal-dominant centronuclear myopathy is a rare hereditary disease in adolescents,mainly involving the distal muscles of the lower extremity.It is extremely rare in pregnancy.This study presented a case of a woman by successful IVF and caesarean delivery without complications in autosomal dominant centronuclear myopathy.This report also reviewed the clinical spectrum of CNM and its management,which resulted in the delivery of a healthy infant.It is important that the clinician has a clear understanding of the clinical spectrum of CNM,the available methods for perinatal diagnosis,and optimal antenatal care.A multidisciplinary team approach is emphasized,with specific reference to the method of analgesia and anesthesia during labor and route of delivery.
出处 《中西医结合护理(中英文)》 2020年第8期343-345,共3页 Journal of Clinical Nursing in Practice
基金 2020年度广西高校中青年教师科研基础能力提升项目(2020KY12036) 广西教育厅/中青年教职工科研能力提升项目(2018glmc026)。
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  • 1JUNGBLUTH H, WALLGREN-PETTERSSON C, LAPORTE J. Centronuclear (myotubular) myopa/hy [J]. Orphanet J Rare Dis, 2008, 3: 26.
  • 2LAPORTE J, HU LJ, KRETZ X-linked myotubular myopathy phosphatase family conserved in 175-182. C, et al. A gene mutated in defines a new putative tyrosine yeast[J]. Nat Genet, 1996, 13(2):.
  • 3BITOUN M, MAUGENRE S, JEANNET PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy[J]. Nat Genet, 2005, 37(11): 1207-1209.
  • 4JUNGBLUTH H, ZHOU H, SEWRY CA, et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene[J]. Neuromuscul Disord, 2007, 17(4): 338-345.
  • 5NICOT AS, TOUSSAINT A, TOSCH V, et al. Mutations in am- phiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy [J]. Nat Genet, 2007, 39(9): 1134-1139.
  • 6ROMERO NB. Centronuclear myopathies: a widening concept[J]. Neuromuscul Disord, 2010, 20(4): 223-228.
  • 7DURIEUX AC, PRUDHON B, GUICHENEY P, et al. Dynamin 2 and human diseases[J]. J Mol Med, 2010, 88(4): 339-350.
  • 8SUSMAN RD, QUJANO-ROY S, YANG N, et al. Expanding the clinical, pathological and MRI phcnotype of DNM2-related ccntronuclear myopalhy [J]. Neunmuscul Disord, 2010, 20(4): 229-237.
  • 9PIZZO A, DAVI M, MARSICO S. Centronuclear myopathy and pregnancy: A case report [J]. Minerva Ginecol, 1997, 49(4): 173-174.
  • 10YUAN N, EL-SAYED YY, RUOSS SJ, et al. Successful preg- nancy and cesarean delivery via noninvasive ventilation in mito- chondrial myopathy[J]. J Pcrinatol, 2009, 29(2): 166-167.

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