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PERINATAL FINDINGS IN A CONGENITAL MYOTONIC DYSTROPHY COHORT
BACKGROUND: Congenital Myotonic Dystrophy (CDM) is the harshest form of Myotonic Dystrophy type 1 (DM1,OMIM #160900). The mode of inheritance is autosomal dominant, and results from a microsatellite expansion in DMPK with an incidence of 2.1:1000,000 live births in Canada. The principal clinical sig...
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| Gepubliceerd in: | Paediatr Child Health |
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| Hoofdauteurs: | , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Oxford University Press
2017
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5804704/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/pch/pxx086.069 |
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