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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Veröffentlicht in:J Neurol
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2018
Schlagworte:
Original Communication
Online Zugang: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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