A deep intronic variant activates a pseudoexon in the MTM1 gene in a family with X-linked myotubular myopathy
Jamie Fitzgerald, Cori D. Feist, Paula R. Dietz, Stephen Moore, Donald Basel
The paper identifies an intronic variant in MTM1 that activates a pseudoexon, leading to nonsense-mediated decay and causing X-linked myotubular myopathy in affected males.
Molecular Syndromology · Jan 1, 2020Peer-reviewedGenetics