RYR1 causing distal myopathy

BACKGROUND: Congenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in t...

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Detalles Bibliográficos
Autores principales: Laughlin, Ruple S., Niu, Zhiyv, Wieben, Eric, Milone, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702567/
https://www.ncbi.nlm.nih.gov/pubmed/29178655
http://dx.doi.org/10.1002/mgg3.338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702567/
https://www.ncbi.nlm.nih.gov/pubmed/29178655
http://dx.doi.org/10.1002/mgg3.338

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