Key result
Mutations in the C-terminal domain of RYR1 were identified in 40% (4 of 10) of patients with congenital neuromuscular disease with uniform type 1 fiber, who also exhibited a milder phenotype.
Why the study?
Is congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) associated with RYR1 mutations?
Population
10 unrelated Japanese patients diagnosed with congenital neuromuscular disease with uniform type 1 fiber…
Design
Case_series
Authors
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RYR1 C-terminal mutations associate with milder CNMDU1; leaves open allelism to central core disease pending validation.
Observational (n=10)
Is congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) associated with RYR1 mutations?
In 40% of patients, CNMDU1 is associated with mutations in the C-terminal domain of RYR1, suggesting it is allelic to central core disease.
Sato et al. (2007) conducted an observational in Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) (n=10). RYR1 mutation vs. No RYR1 mutation was evaluated on Presence of RYR1 mutation. Mutations in the C-terminal domain of RYR1 were identified in 40% (4 of 10) of patients with congenital neuromuscular disease with uniform type 1 fiber, who also exhibited a milder phenotype.
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