Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manife...

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Détails bibliographiques
Auteurs principaux: Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M
Format: Article
Langue:English
Publié: Sciendo 2018-12-01
Collection:Balkan Journal of Medical Genetics
Sujets:
cardiac involvement
creatine kinase (hyper-ckemia)
multisystem disease
myotonia
neuromuscular
znf9 gene
Accès en ligne:https://doi.org/10.2478/bjmg-2018-0024

Internet

https://doi.org/10.2478/bjmg-2018-0024

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