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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Bibliografiske detaljer
Main Authors: Nakagawa, M, Yamada, H, Higuchi, I, Kaminishi, Y, Miki, T, Johnson, K, Osame, M
Format: Artigo
Sprog:Inglês
Udgivet: 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049873/
https://ncbi.nlm.nih.gov/pubmed/8064819
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