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Title:

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.

Document type:
Article; Journal Article
Author(s):
Krenn, Martin; Wagner, Matias; Zulehner, Gudrun; Weng, Rosa; Jäger, Fiona; Keritam, Omar; Sener, Merve; Brücke, Christof; Milenkovic, Ivan; Langer, Agnes; Buchinger, Dominic; Habersam, Richard; Mayerhanser, Katharina; Brugger, Melanie; Brunet, Theresa; Jacob, Maureen; Graf, Elisabeth; Berutti, Riccardo; Cetin, Hakan; Hoefele, Julia; Winkelmann, Juliane; Zimprich, Fritz; Rath, Jakob
Abstract:
BACKGROUND: Neuromuscular disorders (NMDs) are heterogeneous conditions with a considerable fraction attributed to monogenic defects. Despite the advancements in genomic medicine, many patients remain without a diagnosis. Here, we investigate whether a comprehensive reassessment strategy improves the diagnostic outcomes. METHODS: We analyzed 263 patients with NMD phenotypes that underwent diagnostic exome or genome sequencing at our tertiary referral center between 2015 and 2023. We applied a co...     »
Journal title abbreviation:
J Neurol
Year:
2024
Journal volume:
271
Journal issue:
4
Pages contribution:
1937-1946
Fulltext / DOI:
doi:10.1007/s00415-023-12101-6
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/38127101
Print-ISSN:
0340-5354
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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