相似文献
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.肌肉-眼-脑疾病中的POMGnT1突变及表型谱
J Med Genet. 2004 Oct;41(10):e115. doi: 10.1136/jmg.2004.020701.
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An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.肌肉-眼-脑疾病的一种不寻常表现：严重眼部异常伴轻度肌肉和脑部受累。
Neuromuscul Disord. 2009 Oct;19(10):692-5. doi: 10.1016/j.nmd.2009.07.006. Epub 2009 Aug 12.
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Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.福库亭病的表型谱：福库亭病最严重的表型
Brain Dev. 2009 Jun;31(6):419-22. doi: 10.1016/j.braindev.2008.07.012. Epub 2008 Oct 2.
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New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.导致先天性肌营养不良的新的POMT2突变：一个奠基者突变的鉴定
Neurology. 2007 Sep 18;69(12):1254-60. doi: 10.1212/01.wnl.0000268489.60809.c4. Epub 2007 Jul 18.
5
[Defective O-mannosyl glycosylation causes congenital muscular dystrophies].
Tanpakushitsu Kakusan Koso. 2004 Nov;49(15 Suppl):2451-6.
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Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.N-乙酰葡糖胺基转移酶POMGnT1功能丧失与肌肉-眼-脑病
Biochem Biophys Res Commun. 2003 Jun 20;306(1):93-7. doi: 10.1016/s0006-291x(03)00924-0.
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Walker-Warburg syndrome with microtia and absent auditory canals.伴有小耳畸形和外耳道缺如的沃克-沃尔堡综合征。
Am J Med Genet. 1990 Sep;37(1):87-91. doi: 10.1002/ajmg.1320370120.
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Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.严重肌肉-眼-脑病与POMGnT1基因的纯合突变有关。
Eur J Paediatr Neurol. 2008 Mar;12(2):133-6. doi: 10.1016/j.ejpn.2007.06.008. Epub 2007 Sep 18.
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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.新型POMGnT1突变定义了肌肉-眼-脑疾病更广泛的表型谱。
Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29.
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A case study on Walker-Warburg syndrome.
Adv Neonatal Care. 2010 Feb;10(1):21-4. doi: 10.1097/ANC.0b013e3181cbf535.
引用本文的文献
1
Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.斑马鱼中 Pomt1 的缺失导致α- dystroglycan 糖基化和 dystroglycanopathy 表型的丧失。
Hum Mol Genet. 2024 Apr 8;33(8):709-723. doi: 10.1093/hmg/ddae006.
2
Identification of a short, single site matriglycan that maintains neuromuscular function in the mouse.在小鼠中鉴定出一种维持神经肌肉功能的短链单位点基质聚糖。
bioRxiv. 2023 Dec 21:2023.12.20.572361. doi: 10.1101/2023.12.20.572361.
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Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.伴有智力障碍的肌肉萎缩症（MDs）的临床和分子谱：全面概述。
J Mol Neurosci. 2022 Jan;72(1):9-23. doi: 10.1007/s12031-021-01933-4. Epub 2021 Nov 2.
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Phenotype and Genotype Study of Chinese -Related α-Dystroglycanopathy.中国相关α-肌营养不良糖蛋白病的表型与基因型研究
Front Genet. 2021 Aug 3;12:692479. doi: 10.3389/fgene.2021.692479. eCollection 2021.
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A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha.一名患有先天性肌营养不良-糖基化缺陷病的儿童，ISPD基因第3外显子存在纯合错义变异：来自奥里萨邦的罕见病例。
Adv Biomed Res. 2020 Nov 28;9:70. doi: 10.4103/abr.abr_141_19. eCollection 2020.
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Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.鉴定一名男孩患有 POMGNT1 相关的肌营养不良症-糖蛋白聚糖病，该男孩携带一种新型错义 c.386G > A 变异。
Acta Neurol Belg. 2021 Feb;121(1):143-151. doi: 10.1007/s13760-020-01527-8. Epub 2020 Nov 11.
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Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.复合杂合 POMGNT1 突变导致的肌营养不良-糖蛋白聚糖病 A3 型：病例报告。
BMC Pediatr. 2019 Apr 8;19(1):98. doi: 10.1186/s12887-019-1470-2.
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Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.POMGNT1基因的突变会导致非综合征性视网膜色素变性。
Hum Mol Genet. 2016 Apr 15;25(8):1479-88. doi: 10.1093/hmg/ddw022. Epub 2016 Jan 28.
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Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.循证指南摘要：先天性肌营养不良的评估、诊断与管理：美国神经病学学会指南制定小组委员会及美国神经肌肉与电诊断医学协会实践问题审查小组报告
Neurology. 2015 Mar 31;84(13):1369-78. doi: 10.1212/WNL.0000000000001416.
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A glycogene mutation map for discovery of diseases of glycosylation.用于发现糖基化疾病的糖原基因突变图谱。
Glycobiology. 2015 Feb;25(2):211-24. doi: 10.1093/glycob/cwu104. Epub 2014 Sep 28.
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