| congenitale myopathie met vezeltypedisproportie door mutatie van selenoproteïne N (aandoening) |
| congenitale myopathie met vezeltypedisproportie door mutatie van selenoproteïne N |
| CFTDM door SELENON-mutatie
congenitale 'fiber-type disproportion myopathy' door SEPN1-mutatie
|
| Congenital fiber-type disproportion myopathy due to SELENON mutation |
| Congenital fiber-type disproportion myopathy due to selenoprotein N mutation
|
| A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation. |
