| autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' (aandoening) |
| autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' |
| autosomaal recessieve CFTDM door ACTA1-mutatie
autosomaal recessieve congenitale 'fiber-type disproportion myopathy' door mutatie van ACTA1
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| Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation |
| Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle 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. Causative gene mutation is ACTA1 (1q42.13). |
