Article
Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract.
Neuromuscular disorders : NMD - 1 Oct 2022
Karnebeek I E A, Boon H T M, Huis A M P, Cup E H C, Eggink C A, Schouten M I, van der Looij H J, van Engelen B G M, Smulders F H P, Voermans N C
Abstract excerpt
Myotonic dystrophy type 1 is a neuromuscular disorder affecting multiple organ systems and is characterized by a variety of clinical presentations. Anticipation leads to an earlier and more severe phenotype in subsequent generations. Early-onset cataract is a common initial manifestation of the late or adult-onset type of myotonic dystrophy 1. Due to its multicausal nature, early-onset cataract is often not...
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