Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle weakness. Absence of cores was noted in all pati...

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Detalles Bibliográficos
Autores principales: Attali, Ruben, Aharoni, Sharon, Treves, Susan, Rokach, Ori, Becker Cohen, Michal, Fellig, Yakov, Straussberg, Rachel, Dor, Talya, Daana, Muhannad, Mitrani-Rosenbaum, Stella, Nevo, Yoram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722152/
https://www.ncbi.nlm.nih.gov/pubmed/23894444
http://dx.doi.org/10.1371/journal.pone.0069296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722152/
https://www.ncbi.nlm.nih.gov/pubmed/23894444
http://dx.doi.org/10.1371/journal.pone.0069296

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