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名词信息
中 文 名:
先天性肌营养不良症
英 文 名:
congenital muscular dystrophy
中文又称:
先天性肌营养不良
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 muscular dystrophy
相关文献:
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ.
Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792.
PMID:31794464
Differentiating Congenital Myopathy from Congenital Muscular Dystrophy.
Harmelink M.
Clin Perinatol. 2020 Mar;47(1):197-209. doi: 10.1016/j.clp.2019.10.005. Epub 2019 Oct 11.
PMID:32000926
Congenital muscular dystrophy: from muscle to brain.
Falsaperla R, Praticò AD, Ruggieri M, Parano E, Rizzo R, Corsello G, Vitaliti G, Pavone P.
Ital J Pediatr. 2016 Aug 31;42(1):78. doi: 10.1186/s13052-016-0289-9.
PMID:27576556
Muscular Dystrophies.
Carter JC, Sheehan DW, Prochoroff A, Birnkrant DJ.
Clin Chest Med. 2018 Jun;39(2):377-389. doi: 10.1016/j.ccm.2018.01.004.
PMID:29779596
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri F, Antognozzi S, Ripolone M, Zanotti S, Napoli L, Ciscato P, Velardo D, Scuvera G, Nicotra V, Giacobbe A, Milani D, Fortunato F, Garbellini M, Sciacco M, Corti S, Comi GP, Ronchi D.
Skelet Muscle. 2022 Sep 29;12(1):23. doi: 10.1186/s13395-022-00306-8.
PMID:36175989
Congenital muscular dystrophy: an expanding clinical syndrome.
Dubowitz V.
Ann Neurol. 2000 Feb;47(2):143-4. doi: 10.1002/1531-8249(200002)47:2<143::aid-ana2>3.0.co;2-y.
PMID:10665483
Congenital muscular dystrophy: molecular and cellular aspects.
Jimenez-Mallebrera C, Brown SC, Sewry CA, Muntoni F.
Cell Mol Life Sci. 2005 Apr;62(7-8):809-23. doi: 10.1007/s00018-004-4510-4.
PMID:15868406
Congenital muscular dystrophies.
Kirschner J.
Handb Clin Neurol. 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3.
PMID:23622361
Laminin-alpha2 Chain-Deficient Congenital Muscular Dystrophy: Pathophysiology and Development of Treatment.
Durbeej M.
Curr Top Membr. 2015;76:31-60. doi: 10.1016/bs.ctm.2015.05.002.
PMID:26610911
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase beta.
Mitsuhashi S, Nishino I.
Curr Opin Neurol. 2013 Oct;26(5):536-43. doi: 10.1097/WCO.0b013e328364c82d.
PMID:23945283
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