Cargando...
Large duplication in MTM1 associated with myotubular myopathy
Myotubular myopathy is a subtype of centronuclear myopathy with X-linked inheritance and distinctive clinical and pathologic features. Most boys with myotubular myopathy have MTM1 mutations. In remaining individuals, it is not clear if disease is due to an undetected alteration in MTM1 or mutation o...
Guardado en:
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2012
|
| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3594803/ https://ncbi.nlm.nih.gov/pubmed/23273872 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.11.010 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|