We investigated the utility of NGS diagnostics in a cohort of patients with neuromuscular disease from a single pediatric clinic. According to clinical and pathological features, 30 Turkish families were grouped as congenital myopathy, congenital myasthenic syndrome, congenital muscular dystrophy or unclassified. We used a NGS-based gene panel of >450 neuromuscular disease genes and did not pre-filter variants based on the gene. There were 35 patients from 30 families, aged between 18 months to 20 years, and a male/female ratio of 21/14.

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