A case of paternally inherited congenital myotonic dystrophy.

We report two sisters with congenital myotonic dystrophy (CDM) born to a normal mother and an affected father. The congenitally affected daughters had symptoms from birth. The age of onset of DM in the father was 39 years. Analysis of the CTG trinucleotide expansion in this family showed increase in...

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Detaylı Bibliyografya
Asıl Yazarlar: Nakagawa, M, Yamada, H, Higuchi, I, Kaminishi, Y, Miki, T, Johnson, K, Osame, M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1994
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049873/
https://ncbi.nlm.nih.gov/pubmed/8064819
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