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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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Neuroscience
Acesso em linha: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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