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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2018
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| 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 |