| autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van selenoproteïne N (aandoening) |
| autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van selenoproteïne N |
| autosomaal recessieve congenitale 'fiber-type disproportion myopathy' door SEPN1-mutatie
autosomaal recessieve CFTDM door SELENON-mutatie
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| Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation |
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation
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| A rare autosomal recessive 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. |
