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A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies
Congenital myopathy related to mutations in myosin MyHC IIa gene (MYH2) is a rare neuromuscular disease. A single dominant missense mutation has been reported so far in a family in which the affected members had congenital joint contractures at birth, external ophthalmoplegia and proximal muscle wea...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pergamon Press
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639366/ https://www.ncbi.nlm.nih.gov/pubmed/23489661 http://dx.doi.org/10.1016/j.nmd.2013.02.011 |