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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Vydáno v:Front Neurol
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2018
Témata:
Neuroscience
On-line přístup: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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