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

Pub. Date : 2018 Jul 3

PMID : 29970108






4 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 RYR1-RM result from pathogenic mutations in the ryanodine receptor isoform-1 (RYR1) gene where consequent RyR1 protein calcium dysregulation leads to impaired excitation-contraction coupling, oxidative and nitrosative stress, and mitochondrial depletion. Calcium ryanodine receptor 1 Homo sapiens
2 RYR1-RM result from pathogenic mutations in the ryanodine receptor isoform-1 (RYR1) gene where consequent RyR1 protein calcium dysregulation leads to impaired excitation-contraction coupling, oxidative and nitrosative stress, and mitochondrial depletion. Calcium ryanodine receptor 1 Homo sapiens
3 RYR1-RM result from pathogenic mutations in the ryanodine receptor isoform-1 (RYR1) gene where consequent RyR1 protein calcium dysregulation leads to impaired excitation-contraction coupling, oxidative and nitrosative stress, and mitochondrial depletion. Calcium ryanodine receptor 1 Homo sapiens
4 RYR1-RM result from pathogenic mutations in the ryanodine receptor isoform-1 (RYR1) gene where consequent RyR1 protein calcium dysregulation leads to impaired excitation-contraction coupling, oxidative and nitrosative stress, and mitochondrial depletion. Calcium ryanodine receptor 1 Homo sapiens