Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Medicin og biovidenskab

• Creatine Kinase 9%
• DNA 5%
• Dystroglycans 13%
• Exome 11%
• Extracellular Matrix 7%
• Extremities 62%
• Genes 33%
• Genetic Variation 9%
• Glycosylation 9%
• High-Throughput Nucleotide Sequencing 8%
• Ligands 6%
• Muscle Cells 8%
• Muscle Weakness 89%
• Muscles 5%
• Mutation 5%
• Phenotype 5%
• Proteins 3%
• Rare Diseases 9%
• Serum 4%
• Software 7%
• Whole Exome Sequencing 100%