Improving genetic diagnostics of skeletal muscle channelopathies.

Abstract excerpt

INTRODUCTION: Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk. Improved genetic methodology and understanding of phenotypes have improved diagnostic accuracy and yield. AREAS COVERED: We discuss diagnostic advances since the advent of next-generation sequencing and the role of whole exome and genome...

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