作者
Marius Kuhn, Dieter Gläser, Pushpa Raj Joshi, Stephan Zierz, Stephan Wenninger, Benedikt Schoser, Marcus Deschauer
发表日期
2016/4
期刊
Journal of neurology
卷号
263
页码范围
743-750
出版商
Springer Berlin Heidelberg
简介
Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the diagnostic work-up including conventional genetic testing using Sanger sequencing remains complex and often unsatisfactory. We performed targeted sequencing of 23 LGMD-related genes and 15 genes in which alterations result in a similar phenotype in 58 patients with genetically unclassified LGMDs. A genetic diagnosis was possible in 19 of 58 patients (33 %). LGMD2A was the most common form, followed by LGMD2L and LGMD2I. In two patients, pathogenic mutations were identified in genes that are not classified as LGMD genes (glycogen branching enzyme and valosin-containing protein). Thus, a focused next-generation sequencing-based gene panel is a rather satisfactory tool for the diagnosis in unclassified LGMDs.
引用总数
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