Author

Paula R. Dietz

Henry Ford HealthORCID 0000-0002-0268-9775Unclaimed ORCID profile · follow to get notified of new preprints

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Organism:human· 1

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Cori D. Feist· 1 shared Donald BaseliD· 1 shared Jamie FitzgeraldiD· 1 shared Stephen Moore· 1 shared

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2020-2020 · peak 1/yr

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1 shared paperGenetics

Cori D. Feist

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1 paper

Recent·Most cited

GeneticsMolecular SyndromologyPeer-reviewedJan 1, 2020

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…·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.

7 citations