Consensus Statement on Standard of Care for Congenital Myopathies

  title={Consensus Statement on Standard of Care for Congenital Myopathies},
  author={Ching H. Wang and James J. Dowling and Kathryn N. North and Mary K. Schroth and Thomas Sejersen and Frederic Shapiro and Jonathan Bellini and Hali E. Weiss and Marc Guillet and Kimberly Amburgey and Susan D. Apkon and Enrico Silvio Bertini and Carsten G. Bonnemann and Nigel F. Clarke and Anne Connolly and Brigitte Estournet‐Mathiaud and Dominic Fitzgerald and Julaine M. Florence and Richard Gee and Juliana Gurgel-Giannetti and Allan M. Glanzman and Brittany Hofmeister and Heinz Jungbluth and Anastassios C. Koumbourlis and Nigel G. Laing and Marion Main and Leslie Morrison and Craig F Munns and Kristy J. Rose and Pamela M. Schuler and Caroline A. Sewry and Kari Storhaug and Mariz Vainzof and Nanci Yuan},
  journal={Journal of Child Neurology},
  pages={363 - 382}
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail… 

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