Evidence‐based path to newborn screening for duchenne muscular dystrophy

2012808 citationsJournal Article

Authors

Jerry R. Mendell · Nationwide Children's Hospital

Chris Shilling · Nationwide Children's Hospital

Nancy D. Leslie · University of Cincinnati

Kevin M. Flanigan · Nationwide Children's Hospital

Roula Al‐Dahhak · Nationwide Children's Hospital

Julie Gastier‐Foster · Nationwide Children's Hospital

Kelley Kneile

Abstract

A 2-tier system of analysis for newborn screening for DMD has been established. This path for newborn screening fits our health care system, minimizes false-positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations.

Topics & Keywords

Muscle Physiology and Disorders Virus-based gene therapy research Telomeres, Telomerase, and Senescence

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Annals of Neurology

Volume 71, Issue 3, pp. 304-313

DOI: 10.1002/ana.23528

Field-Weighted Citation Impact: 15.33