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Paternal transmission of congenital myotonic dystrophy.

作者信息

Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai E H, Fischbeck K H

机构信息

Department of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104.

出版信息

J Med Genet. 1994 Jul;31(7):518-20. doi: 10.1136/jmg.31.7.518.

Abstract

The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6269/1049972/811dc42560a4/jmedgene00286-0018-a.jpg

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