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

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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Bibliographic Details
Main Authors: Joshua J. Todd, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C. Chrismer, Carolyn Allen, Mary D. Meyer, Anna Kuo, Monique S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling, Katherine G. Meilleur
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-03-01
Series:Frontiers in Neurology
Subjects:
genotype
phenotype
RYR1
neuromuscular
magnetic resonance imaging
Online Access:http://journal.frontiersin.org/article/10.3389/fneur.2018.00118/full

Internet

http://journal.frontiersin.org/article/10.3389/fneur.2018.00118/full

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