Article
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Annals of human genetics - 1 May 2023
Çavdarlı Büşranur, Köken Özlem Yayici, Satılmış Saide Betül Arslan, Bilen Şule, Ardıçlı Didem, Ceylan Ahmet Cevdet, Gündüz Cavidan Nur Semerci, Topaloğlu Haluk
Abstract excerpt
Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole-exome sequencing (WES) has been on the rise to become the usual method of choice for molecular diagnosis in patients presenting with muscular dystrophy or congenital or metabolic myopathy phenotype. Here, we used a panel with 47 genes including not only muscular dystrophy but...
Topics
- Humans
- Muscular Dystrophies, Limb-Girdle
- Mutation
- Muscular Dystrophy, Duchenne
- Phenotype
- High-Throughput Nucleotide Sequencing
- Pentosyltransferases
- Anoctamins