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

Author:

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.ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference24 articles.

1. Myotonic dystrophy;Harper,2001

2. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy;Harley;Nature,1992

3. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy;Harley;Am J Hum Genet,1993

4. Life habits in myotonic dystrophy type 1;Gagnon;J rehabil med: official j UEMS European Board of Physical and Rehabilitation Medicine,2007

5. Relative risks for comorbidities associated with myotonic dystrophy: a population-based analysis;Johnson;Muscle Nerve,2015

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