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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...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2013
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| Materias: | |
| 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 |