autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3 (aandoening) |
| autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van tropomyosine 3 |
| autosomaal recessieve congenitale 'fiber-type disproportion myopathy' door mutatie van TPM3 autosomaal recessieve CFTDM door TPM3-mutatie
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| Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation |
| Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 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 TPM3 (1q21.3). |