Paternal transmission of congenital myotonic dystrophy.

We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late fath...

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Detaylı Bibliyografya
Asıl Yazarlar: de Die-Smulders, C E, Smeets, H J, Loots, W, Anten, H B, Mirandolle, J F, Geraedts, J P, Höweler, C J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1997
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051123/
https://ncbi.nlm.nih.gov/pubmed/9391889
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