Article
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Journal of neurology - 1 Apr 2024
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 excerpt
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...
Topics
- Adult
- Humans
- Male
- Neuromuscular Diseases
- Muscular Diseases
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Phenotype