Muscle weakness was stable or rather improved during childhood. In addition, some patients revealed ptosis and/or ophthalmoparesis. All patients had compound heterozygous mutations in the central portion of RYR1 distributed between 18 and 66. In conclusion, mutations in RYR1 gene are associated with...
(CCD), an autosomal dominantmyopathycharacterized byhypotoniaand slowly progressive proximalmuscle weakness. Central cores of skeletal muscle fibers lack oxidative orphosphorylaseactivity, andelectron microscopyof the cores shows disintegration of the contractile apparatus, streaming of the Z lines and ...
Tamoxifen-induced recombination in the RYR1 gene at adult age resulted in a progressive reduction in the protein amount reaching a stable level of 50% of the initial amount, and was associated with a progressive muscle weakness and atrophy. Measurement of calcium fluxes in isolated muscle fibers ...
Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Mutations in the RYR1 gene yield RyR1 protein dysfunction that manifests clinically as RYR1-related congenital myopathies (RY
The most frequently observed clinical manifes- tations in this cohort were delayed motor milestones and proximal skeletal muscle weakness (both observed in 87% of cases), followed by skeletal muscle atrophy (observed in 79% of cases), abnormal gait, and facial weakness (both observed in 77% ...
The RYR1 gene codes for a calcium channel named Ryanodine receptor 1, which is expressed in skeletal muscle fibers. The failure of this channel causes muscle weakness in patients, which leads to motor disabilities. Currently, there are no effective treatments for these diseases,...
At least one RYR1 mutation was identified in 69 of them and these patients were further studied. Clinical and histopathological features were collected. Clinical phenotype was highly heterogeneous ranging from asymptomatic or paucisymptomatic hyperCKemia to severe muscle weakness and skeletal deformity ...
Characterized primarily by the destruction of muscle cells, ERM results in the release of intracellular contents into the bloodstream, leading to a spectrum of symptoms, including myalgia, dark urine, weakness, and marked elevations in serum creatine kinase (CK) and myoglobin levels. So...
Muscle weakness in myopathies can be due to changes in the ryanodine receptor (RyR1) function resulting from a direct RyR1 genetic mutation or other modifications that have a consequential impact on the RyR1. These changes can cause muscle weakness by reducing the amount of Ca2+ released followin...
Features of RYR1 myopathies include muscle weakness, fatigue, muscle pain, joint and skeletal abnormalities, breathing problems, cramps, and difficulty walking. In disorders with malignant hyperthermia susceptibility (MHS) , life-threatening hypermetabolic episodes can be triggered by exertion, heat ...