先天性肌营养不良
肌营养不良聚糖
层粘连蛋白
肌营养不良
免疫荧光
病理
生物
免疫印迹
肌营养不良蛋白
杜氏肌营养不良
分子生物学
内科学
医学
基因
遗传学
细胞外基质
抗体
作者
Rachel A. Peat,Janine Smith,Alison G. Compton,Naomi L. Baker,Rishika A. Pace,Dean J. Burkin,S. J. Kaufman,Shireen R. Lamandé,Kathryn N. North
出处
期刊:Neurology
[Ovid Technologies (Wolters Kluwer)]
日期:2007-12-27
卷期号:71 (5): 312-321
被引量:94
标识
DOI:10.1212/01.wnl.0000284605.27654.5a
摘要
We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort.We screened 101 patients with CMD with a combination of immunofluorescence, Western blotting, and DNA sequencing to identify disease-associated abnormalities in glycosylated alpha-dystroglycan, collagen VI, laminin alpha2, alpha7-integrin, and selenoprotein.A total of 45% of the CMD cohort were assigned to an immunofluorescent subgroup based on their abnormal staining pattern. Abnormal staining for glycosylated alpha-dystroglycan was present in 25% of patients, and approximately half of these had reduced glycosylated alpha-dystroglycan by Western blot. Sequencing of the FKRP, fukutin, POMGnT1, and POMT1 genes in all patients with abnormal alpha-dystroglycan immunofluorescence identified mutations in one patient for each of these genes and two patients had mutations in POMT2. Twelve percent of patients had abnormalities in collagen VI immunofluorescence, and we identified disease-causing COL6 mutations in eight of nine patients in whom the genes were sequenced. Laminin alpha2 deficiency accounted for only 8% of CMD. alpha7-Integrin staining was absent in 12 of 45 patients studied, and ITGA7 gene mutations were excluded in all of these patients.We define the distribution of different forms of congenital muscular dystrophy in a large cohort of mixed ethnicity and demonstrate the utility and limitations of current diagnostic techniques.
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