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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Vydáno v:J Neurol
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2018
Témata:
Original Communication
On-line přístup: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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