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名词信息
中 文 名:
肌管性肌病
英 文 名:
myotubular myopathy
中文又称:
肌管肌病
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
myotubular myopathy
相关文献:
X-linked myotubular myopathy.
Lawlor MW, Dowling JJ.
Neuromuscul Disord. 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003.
PMID:34736623
X-linked myotubular myopathy: a clinical report and a review of the mild phenotype.
Barreto-Mota R, Figueirinha J, Quental R, Fonseca J, Melo C, Sampaio M, Sousa R.
Rev Neurol. 2023 Apr 1;76(7):243-246. doi: 10.33588/rn.7607.2021447.
PMID:36973888
Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J.
Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26.
PMID:18817572
X-linked myotubular myopathy: an untreated treatable disease.
Martin C, Servais L.
Expert Opin Biol Ther. 2025 Apr;25(4):379-394. doi: 10.1080/14712598.2025.2473430. Epub 2025 Mar 6.
PMID:40042390
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S.
Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7.
PMID:37977713
X-linked myotubular myopathy: Living longer and awaiting treatment.
Finkel RS, Darras BT.
Neurology. 2017 Sep 26;89(13):1316-1317. doi: 10.1212/WNL.0000000000004428. Epub 2017 Aug 25.
PMID:28842443
[Myotubular myopathy].
Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.
Rev Neurol (Paris). 2000 Nov;156(11):960-4.
PMID:11119047
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ.
Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792.
PMID:31794464
X-linked myotubular myopathy in a family of two infant siblings: A case report and review.
Koe AS, Tan YY, Vora S.
Pediatr Neonatol. 2024 Nov;65(6):527-531. doi: 10.1016/j.pedneo.2024.02.009. Epub 2024 Jul 6.
PMID:39013721
Gene therapy for X-linked myotubular myopathy: the challenges.
Voermans NC, Ferreiro A, Aartsema-Rus A, Jungbluth H.
Lancet Neurol. 2023 Dec;22(12):1089-1091. doi: 10.1016/S1474-4422(23)00416-7.
PMID:37977700
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