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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...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Pergamon Press
2013
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3639366/ https://ncbi.nlm.nih.gov/pubmed/23489661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.02.011 |
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