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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...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: de Die-Smulders, C E, Smeets, H J, Loots, W, Anten, H B, Mirandolle, J F, Geraedts, J P, Höweler, C J
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1997
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051123/
https://ncbi.nlm.nih.gov/pubmed/9391889
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