两名患有迟发性LAMA2相关肌营养不良症的兄弟姐妹中的新型突变（c.8725T>C） - Suppr

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.

作者信息

Kim Min Wook, Jang Dae Hyun, Kang Jun, Lee Seungok, Joo Sun Young, Jang Ja Hyun, Cho Eun Hae, Choi Young Chul, Lee Jung Hwan

机构信息

Department of Rehabilitation, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Department of Hospital Pathology, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

Ann Lab Med. 2017 Jul;37(4):359-361. doi: 10.3343/alm.2017.37.4.359.

DOI:10.3343/alm.2017.37.4.359

PMID:28445022

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5409025/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e7e/5409025/3e17aa3a1e31/alm-37-359-g001.jpg

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Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.两名患有迟发性LAMA2相关肌营养不良症的兄弟姐妹中的新型突变（c.8725T>C）

Ann Lab Med. 2017 Jul;37(4):359-361. doi: 10.3343/alm.2017.37.4.359.

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Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy.靶向二代测序揭示了一名先天性肌营养不良患者中LAMA2基因的一种新型基因内缺失。

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Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.外显子组测序在两个具有非典型表型和近乎正常脑 MRI 的同胞兄妹中检测到 LAMA2 复合杂合无义突变。

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Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.靶向二代测序在一名缺乏merosin的先天性肌营养不良患者中鉴定出LAMA2基因的一个新缺失。

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Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.缺失 LAMA2 外显子 4 是中国人肌无力症患者最常见的突变。

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Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.一个晚发性LAMA2相关肌营养不良家族的临床和分子遗传学分析

Brain Dev. 2016 Feb;38(2):242-9. doi: 10.1016/j.braindev.2015.08.005. Epub 2015 Aug 21.

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.通过诊断性外显子组测序鉴定Waardenburg综合征患者PAX3基因中的一种新型新生变异：韩国首例分子诊断。

Ann Lab Med. 2015 May;35(3):362-5. doi: 10.3343/alm.2015.35.3.362. Epub 2015 Apr 1.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.由LAMA2基因突变引起的肢带型肌营养不良症：因合并周围神经病变导致的诊断困难

Neuromuscul Disord. 2014 Aug;24(8):677-83. doi: 10.1016/j.nmd.2014.05.008. Epub 2014 Jun 2.

Clinical and pathological heterogeneity in late-onset partial merosin deficiency.晚发型部分 merosin 缺乏症的临床和病理异质性。

Muscle Nerve. 2011 Oct;44(4):590-3. doi: 10.1002/mus.22196.

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.层粘连蛋白α2链（巢蛋白）异常的扩展表型：病例系列及综述

J Med Genet. 2001 Oct;38(10):649-57. doi: 10.1136/jmg.38.10.649.

Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy.缺乏merosin的先天性肌营养不良早期的大量肌细胞变性。

Neuromuscul Disord. 2001 May;11(4):350-9. doi: 10.1016/s0960-8966(00)00203-0.

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.层粘连蛋白α2型肌营养不良症：22例患者的基因型/表型研究

Neurology. 1998 Jul;51(1):101-10. doi: 10.1212/wnl.51.1.101.

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.由于部分merosin缺乏导致的伴有脑白质改变的迟发性肌营养不良。

Neuromuscul Disord. 1997 Mar;7(2):85-9. doi: 10.1016/s0960-8966(96)00421-x.

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Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.

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