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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Detalles Bibliográficos
Autores principales: Finsterer, J, Stöllberger, C, Reining-Festa, A, Loewe-Grgurin, M, Gencik, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454246/
https://www.ncbi.nlm.nih.gov/pubmed/30984523
http://dx.doi.org/10.2478/bjmg-2018-0024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454246/
https://www.ncbi.nlm.nih.gov/pubmed/30984523
http://dx.doi.org/10.2478/bjmg-2018-0024

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