A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Stephanie E Wallace; Jessie H Conta; Thomas L Winder; Tobias Willer; Jamie M Eskuri; Richard Haas; Kathleen Patterson; Kevin P Campbell; Steven A Moore; Sidney M Gospe

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A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

机译：POMT1中的一种新型致畸突变调节与POMT1非义突变相关的严重先天性肌营养不良表型。

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Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle muscular dystrophy. We report two male siblings, ages 19 and 14, and an unrelated 6-year old female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities. Compound heterozygous mutations in POMT1 were identified including a previously reported nonsense mutation (c.2167dupG; p.Asp723Glyfs*8) associated with Walker-Warburg syndrome and a novel missense mutation in a highly conserved region of the protein O-mannosyltransferase 1 protein (c.1958C>T; p.Pro653Leu). This novel variant reduces the phenotypic severity compared to patients with homozygous c.2167dupG mutations or compound heterozygous patients with a c.2167dupG mutation and a wide range of other mutant POMT1 alleles.

机译：POMT1中的突变导致一组神经肌肉条件，从步行者 - Warburg综合征到肢体腰带肌营养不良的严重程度。我们报告了两名男性兄弟姐妹，19岁和14岁，一个无关的6岁女性，早期发病肌营养不良和智力残疾，具有最小的结构脑异常，没有眼睛异常。鉴定POMT1中的化合物杂合酶突变，包括先前报道的胡言乱语突变（C.167dupg; p.asp723glyfs * 8）与Walker-Warburg综合征和新的蛋白质O-甘露糖基转移酶1蛋白的高度保守区域中的小说畸形突变（c .1958c> t; p.pro653leu）。与纯合C.2167Dupg突变或复合杂合患者的C.2167Dupg突变患者和各种其他突变POMT1等位基因相比，这种新型变异减少了表型严重程度。

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《Neuromuscular disorders: NMD》 |2014年第4期|共9页
作者
Stephanie E Wallace; Jessie H Conta; Thomas L Winder; Tobias Willer; Jamie M Eskuri; Richard Haas; Kathleen Patterson; Kevin P Campbell; Steven A Moore; Sidney M Gospe;
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Department of Neurology University of Washington Seattle WA United States;

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正文语种 eng
中图分类神经病学;
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1. A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. [J] . Stephanie E Wallace, Jessie H Conta, Thomas L Winder, Neuromuscular disorders: NMD . 2014,第4期

机译：POMT1中的新型错义突变可调节与POMT1无意义突变相关的严重先天性肌营养不良症表型。
2. Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations. [J] . Patricia Hafner, Ulrike Bonati, Arne Fischmann, Neuromuscular disorders: NMD . 2014,第4期

机译：先天性肌营养不良患者具有新的POMT1和POMT2突变的下肢的骨骼肌MRI。
3. Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations. [J] . Patricia Hafner, Ulrike Bonati, Arne Fischmann, Neuromuscular disorders: NMD . 2014,第4期

机译：先天性肌营养不良患者的下肢骨骼肌MRI新型POMT1和POMT2突变。
4. Predicting muscular dystrophy with sequence based features for point mutations [C] . K. Sathyavikasini, M S Vijaya IEEE International Conference on Research in Computational Intelligence and Communication Networks . 2015

机译：使用基于序列的点突变特征预测肌肉营养不良
5. Regulation of RNA splicing by nonsense mutations. [D] . Imam, J. Saadi. 2007

机译：通过无意义的突变调节RNA剪接。
6. A Novel Missense Mutation in POMT1 Modulates the Severe Congenital Muscular Dystrophy Phenotype Associated with POMT1 Nonsense Mutations [O] . Stephanie E. Wallace, Jessie H. Conta, Thomas L. Winder, -1

机译：POMT1中的新型错义突变调节与POMT1无意义突变相关的严重的先天性肌营养不良症表型。
7. A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations [O] . Stephanie E. Wallace, Jessie H. Conta, Thomas L. Winder, 2014

机译：POMT1中的一种新型畸形突变调节与POMT1无意义突变相关的严重先天性肌营养不良表型

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

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