| congenitale myopathie met vermindering van type 2-spiervezels (aandoening) |
| congenitale myopathie met vermindering van type 2-spiervezels |
| aangeboren spierziekte met type 2-spiervezelatrofie
aangeboren spierziekte met atrofie van snelle spiervezels
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| Congenital myopathy with reduced type 2 muscle fibers |
| Congenital myopathy with type II fiber atrophy
Congenital myopathy with fast-twitch fiber atrophy
Congenital myopathy with reduced type II muscle fibers
Congenital myopathy with type 2 muscle fiber atrophy
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| A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32. |
