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Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum
OBJECTIVE: To report a series of 11 patients on the severe end of the spectrum of ryanodine receptor 1 (RYR1) gene–related myopathy, in order to expand the clinical, histologic, and genetic heterogeneity associated with this group of patients. METHODS: Eleven patients evaluated in the neonatal perio...
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| Autors principals: | , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Lippincott Williams & Wilkins
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3662324/ https://ncbi.nlm.nih.gov/pubmed/23553484 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182900380 |
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