A carregar...
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...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pergamon Press
2013
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|