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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Neurol
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2018
Matèries:
Neuroscience
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars