Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy

Ryanodine receptor 1 (RYR1) is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the RYR1 gene cause a range of RYR1-related myopathies and/or susceptibility to malignant hyperthermia (MH). Recentl...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Dilaver, Nafi, Mazaheri, Neda, Maroofian, Reza, Zeighami, Jawaher, Seifi, Tahere, Zamani, Mina, Sedaghat, Alireza, Shariati, Gholam Reza, Galehdari, Hamid
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2017
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5803739/
https://ncbi.nlm.nih.gov/pubmed/29456480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000481897
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados