Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Valérie BiancalanaNorma B RomeroInger Johanne ThuestadJaakko IgnatiusJanne KatajaMaria GardbergDelphine HéronEdoardo MalfattiAnders OldforsJocelyn Laporte

Published in: Acta neuropathologica communications (2018)

Keyphrases

late onset
early onset
muscular dystrophy
myasthenia gravis
duchenne muscular dystrophy