A case of paternally inherited congenital myotonic dystrophy.

doi:10.1136/jmg.31.5.397

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Article

A case of paternally inherited congenital myotonic dystrophy.

Journal of medical genetics - 1 May 1994

Nakagawa M, Yamada H, Higuchi I, Kaminishi Y, Miki T, Johnson K, Osame M

Abstract excerpt

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...

Topics

Adolescent
Adult
Child
Fathers
Female
Gene Expression
Humans
Male
Middle Aged
Myotonic Dystrophy
Pedigree
Phenotype
Repetitive Sequences, Nucleic Acid

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