Journal of Neurology

, Volume 263, Issue 4, pp 743–750 | Cite as

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

  • Marius Kuhn
  • Dieter Gläser
  • Pushpa Raj Joshi
  • Stephan Zierz
  • Stephan Wenninger
  • Benedikt Schoser
  • Marcus Deschauer
Original Communication

Abstract

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.

Keywords

Limb-girdle muscular dystrophies Gene panel Targeted next-generation sequencing 

Supplementary material

415_2016_8036_MOESM1_ESM.docx (35 kb)
Supplementary material 1 (DOCX 35 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Marius Kuhn
    • 1
    • 2
  • Dieter Gläser
    • 1
  • Pushpa Raj Joshi
    • 3
  • Stephan Zierz
    • 3
  • Stephan Wenninger
    • 4
  • Benedikt Schoser
    • 4
  • Marcus Deschauer
    • 3
    • 5
  1. 1.GenetikumNeu-UlmGermany
  2. 2.Division of NeurophysiologyUniversität UlmUlmGermany
  3. 3.Klinik und Poliklinik für NeurologieUniversität Halle-WittenbergHalleGermany
  4. 4.Friedrich-Baur-Institut, Neurologische KlinikLudwig-Maximilians-Universität MünchenMunichGermany
  5. 5.Klinik und Poliklinik für Neurologie, Technische Universität München, Klinikum rechts der IsarMunichGermany

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