Journal article

Consensus statement on standard of care for congenital myopathies

CH Wang, JJ Dowling, K North, MK Schroth, T Sejersen, F Shapiro, J Bellini, H Weiss, M Guillet, K Amburgey, S Apkon, E Bertini, C Bonnemann, N Clarke, AM Connolly, B Estournet-Mathiaud, D Fitzgerald, JM Florence, R Gee, J Gurgel-Giannetti Show all

Journal of Child Neurology | SAGE PUBLICATIONS INC | Published : 2012

Abstract

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 correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10..

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