A novel autosomal recessive alteration in the RYR1 gene in a patient with profound hypotonia
Homozygous and compound heterozygous mutations in the RYR1 gene have been reported to cause hypotonia, facial weakness, nemaline myopathy, respiratory insufficiency, swallowing disturbances, and ophthalmoplegia
Authors: Adam Chamberlin; Sha Tang; Zöe Powis
Collaborators: SUNY Upstate Medical University, Syracuse, NY