Article
[Direct genotype analysis in congenital myotonic dystrophy with an unusual family anamnesis].
Klinische Padiatrie - 1 Jan 2000
Bindl L, Rummel W, Walter S, Haverkamp F, Kowalewski S, Lentze M J, Koch M
Abstract excerpt
We report a case of congenital myotonic dystrophy (CMD) in which not only the mother but also the paternal family is affected by myotonic dystrophy (DM). Clinical symptoms consisted of poor spontaneous movements, typical facial appearance, respiratory insufficiency attributable to diaphragmatic w...
Topics
- Electromyography
- Female
- Genetic Carrier Screening
- Genetic Counseling
- Genotype
- Humans
- Infant
- Infant, Newborn
- Myotonic Dystrophy
- Pedigree