Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

The ryanodine receptor 1-related congenital myopathies (RYR1-RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and resp...

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Pubblicato in:Front Neurol
Autori principali: Todd, Joshua J., Razaqyar, Muslima S., Witherspoon, Jessica W., Lawal, Tokunbor A., Mankodi, Ami, Chrismer, Irene C., Allen, Carolyn, Meyer, Mary D., Kuo, Anna, Shelton, Monique S., Amburgey, Kim, Niyazov, Dmitriy, Fequiere, Pierre, Bönnemann, Carsten G., Dowling, James J., Meilleur, Katherine G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Neuroscience
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5845096/
https://ncbi.nlm.nih.gov/pubmed/29556213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.00118
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