Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies
Babi R. R. Nallamilli,
Yinghong Pan,
Lisa Sniderman King
et al.
Abstract:ObjectiveClinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and copy number variants in one assay.MethodsPatients with clinical diagnosis of LGMD or other overlapping muscular dystrophies in the United States were tested by PerkinElme… Show more
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