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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
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
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
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
B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature.
Lallar M, Kaur L, Preet M, Singh UP.
Fetal Pediatr Pathol. 2022 Oct;41(5):837-842. doi: 10.1080/15513815.2021.1982091. Epub 2021 Sep 30.
PMID:34587870
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
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