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

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

Abstract 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 protei...

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Bibliographic Details
Main Authors: Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann, Katherine G. Meilleur
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
RyR1
6-min walk test
Disease progression
Fatigue
Online Access:http://link.springer.com/article/10.1186/s13023-018-0848-9

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http://link.springer.com/article/10.1186/s13023-018-0848-9

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