Preoperative Evaluation of Pediatric Patients with Muscle Disorders
- When evaluated by echocardiography, poor scanning windows may lead to underestimation of left ventricular dysfunction compared with evaluation by cardiac MRI in Duchenne muscular dystrophy patients
- In performing genetic analysis of malignant hyperthermia cohorts, only 35 RYR1 and 2 CACNA1S of over 200 genetic variants identified are sufficiently characterized to be considered pathogenic for malignant hyperthermia, underscoring the lack of specificity of this testing at present
- Next-generation gene sequencing has significantly improved early diagnosis and confirmation of mitochondrial disorders in children