[1]郑 珊,刘雪静,田秀英.MTM1基因突变致新生儿中央核性肌病2例[J].医学信息,2021,34(06):191-192.[doi:10.3969/j.issn.1006-1959.2021.06.054]
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MTM1基因突变致新生儿中央核性肌病2例()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
34卷
期数:
2021年06期
页码:
191-192
栏目:
出版日期:
2021-03-15

文章信息/Info

文章编号:
1006-1959(2021)06-0191-02
作者:
郑 珊刘雪静田秀英
(天津市中心妇产科医院/天津市人类发育与生殖调控重点实验室新生儿科,天津 300100)
关键词:
新生儿肌张力低下基因突变中央核性肌病
分类号:
R746
DOI:
10.3969/j.issn.1006-1959.2021.06.054
文献标志码:
B

参考文献/References:

[1]Jungbluth H,Wallgren-Pettersson C,Laporte J.Centronuclear (myotubuIar) myopathyt[J].Orphanet Journal of Rare Diseases,2008,3(1):26-28. [2]Romero NB.Centronuclear myopathies:a widening concept[J].Neuromuscul Disord,2010,20(4):223-228. [3]董景新,刘洁玉,张瑜,等.儿童中央核肌病临床基因型分析及随访研[J].中华实用儿科临床杂志,2020,35(19):1476-1479. [4]Savarese ML,Musumeci O,Giugliano T,et al.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers[J].Neuromuscul Disord,2016,26(4-5):292-299. [5]Wang H,Castiglioni C,Kacar Bayram A,et al.Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy[J].Neuromuscul Disord,2017,27(9):836-842. [6]张晓辉,宋佳,张杰文,等.1例进行性四肢无力的中央核肌病患者病理及影像学特征[J].中华实用诊断与治疗杂志,2018,3(32):291-292.

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更新日期/Last Update: 1900-01-01