NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

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Primary periodic paralysis comprises rare skeletal ion channelopathies characterized by recurrent quadriplegia typically associated with high or low serum potassium levels. We developed a gene panel that includes 10 ion channel-related genes and 245 muscular dystrophy- and myopathy-related genes and used this panel to diagnose 60 patients with primary periodic paralysis and identify the disease-causing or risk-associated gene mutations. The average sequencing depth using this panel was 488.11 ×, and the average coverage was 99.45%.

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