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名词信息
中 文 名:
先天性肌纤维比例失常
英 文 名:
congenital fiber type disproportion
中文又称:
先天性肌纤维类型不均衡
中文曾称:
名词来源:
所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
congenital fiber type disproportion
相关文献:
Congenital fiber-type disproportion.
Clarke NF.
Semin Pediatr Neurol. 2011 Dec;18(4):264-71. doi: 10.1016/j.spen.2011.10.008.
PMID:22172422
Congenital fiber type disproportion--30 years on.
Clarke NF, North KN.
J Neuropathol Exp Neurol. 2003 Oct;62(10):977-89. doi: 10.1093/jnen/62.10.977.
PMID:14575234
Congenital fiber type disproportion.
Kissiedu J, Prayson RA.
J Clin Neurosci. 2016 Apr;26:136-7. doi: 10.1016/j.jocn.2015.08.029. Epub 2015 Oct 29.
PMID:26526626
Congenital myopathies: an update.
Claeys KG.
Dev Med Child Neurol. 2020 Mar;62(3):297-302. doi: 10.1111/dmcn.14365. Epub 2019 Oct 2.
PMID:31578728
Congenital myopathies.
Younger DS.
Handb Clin Neurol. 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3.
PMID:37562885
Congenital fiber-type disproportion presenting as ventricular fibrillation.
Iwai K, Yoshida Y, Kazuta T, Suzuki T, Kuki I.
Pediatr Int. 2017 Sep;59(9):1025-1027. doi: 10.1111/ped.13339. Epub 2017 Aug 7.
PMID:28786238
Congenital fiber type disproportion myopathy caused by LMNA mutations.
Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK.
J Neurol Sci. 2014 May 15;340(1-2):94-8. doi: 10.1016/j.jns.2014.02.036. Epub 2014 Mar 5.
PMID:24642510
A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
Matsumoto A, Tsuda H, Furui S, Kawada-Nagashima M, Anzai T, Seki M, Watanabe K, Muramatsu K, Osaka H, Iwamoto S, Nishino I, Yamagata T.
Mol Genet Genomic Med. 2022 Sep;10(9):e2008. doi: 10.1002/mgg3.2008. Epub 2022 Jun 27.
PMID:35757965
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ.
Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792.
PMID:31794464
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.
Moreno CAM, Estephan EP, Fappi A, Monges S, Lubieniecki F, Lopes Abath Neto O, Reed UC, Donkervoort S, Harms MB, Bonnemann C, Zanoteli E.
Neuromuscul Disord. 2020 Jan;30(1):54-58. doi: 10.1016/j.nmd.2019.11.001. Epub 2019 Nov 7.
PMID:31866162
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