Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre

Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies. Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease, family history, clini...

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Veröffentlicht in:	PloS one 2021-06, Vol.16 (6), p.e0252953-e0252953
Hauptverfasser:	Babić Božović, Ivana, Maver, Aleš, Leonardis, Lea, Meznaric, Marija, Osredkar, Damjan, Peterlin, Borut
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Aged Biology and Life Sciences Biomarkers - analysis Biomarkers - metabolism Biopsy Cardiomyopathy Child Child, Preschool Cognitive ability Congenital diseases Creatine Creatine kinase Data analysis Diagnosis Disease Editing Electromyography Evaluation Exome Exome Sequencing - methods Family medical history Female Follow-Up Studies Genes Genetic aspects Genetic Testing - methods Genetics Genomes Genomics Genotype & phenotype Health care facilities Humans Infant Infant, Newborn Kinases Male Medical diagnosis Medical records Medical tests Medicine Medicine and Health Sciences Middle Aged Muscle diseases Muscles Muscular Diseases - diagnosis Muscular Diseases - epidemiology Muscular Diseases - genetics Muscular dystrophy Mutation Myopathy Neurology Neuromuscular diseases Neurophysiology Patients Pediatrics Phenotype Prognosis Research and Analysis Methods Retrospective Studies Signs and symptoms Slovenia - epidemiology Tertiary Care Centers - statistics & numerical data Young Adult
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