Correlation of phenotype with genotype and protein structure in RYR1-related disorders

Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of RYR1-related disorders. Presentation during infancy is typical and ranges from delayed motor milestones and proximal muscle weakness to severe respiratory impairment and ophthalmoplegia. We aimed to elucidate co...

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Detalhes bibliográficos
Publicado no:J Neurol
Main Authors: Todd, Joshua J., Sagar, Vatsala, Lawal, Tokunbor A., Allen, Carolyn, Razaqyar, Muslima S., Shelton, Monique S., Chrismer, Irene C., Zhang, Xuemin, Cosgrove, Mary M., Kuo, Anna, Vasavada, Ruhi, Jain, Minal S., Waite, Melissa, Rajapakse, Dinusha, Witherspoon, Jessica W., Wistow, Graeme, Meilleur, Katherine G.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
Assuntos:
Original Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6182665/
https://ncbi.nlm.nih.gov/pubmed/30155738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-018-9033-2
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