Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.

Jacob N Miller Ellen van der Plas Mark J Hamilton Timothy R Koscik Laurie Gutmann Sarah A Cumming Darren G Monckton Peggy C Nopoulos

Published in: Neurology. Genetics (2020)

Our results support the notion that patients affected by DM1 with RI demonstrate a milder phenotype with the same pattern of deficits as those with PR indicating a similar disease process.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
traumatic brain injury
prognostic factors
early onset
type diabetes
patient reported outcomes
metabolic syndrome
glycemic control