6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

BACKGROUND: RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population. RYR1-RM result from pathogenic mutations in the ryanodine receptor isoform-1 (RYR1) gene where consequent RyR1 protein calciu...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Witherspoon, Jessica W., Vasavada, Ruhi P., Waite, Melissa R., Shelton, Monique, Chrismer, Irene C., Wakim, Paul G., Jain, Minal S., Bönnemann, Carsten G., Meilleur, Katherine G.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6029052/
https://ncbi.nlm.nih.gov/pubmed/29970108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0848-9
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