Article
Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis.
Human reproduction (Oxford, England) - 1 Feb 1998
Takai Y, Tsutsumi O, Harada I, Fujii T, Kashima T, Kobayashi K, Toda T, Taketani Y
Abstract excerpt
We applied microsatellite analysis to prenatal diagnosis of Fukuyama-type congenital muscular dystrophy (FCMD), an autosomal recessive severe muscular dystrophy associated with brain malformations. Recent identification of the FCMD gene locus at 9q31-q33 provided the basis for prenatal diagnosis...
Topics
- Adult
- Amniocentesis
- Brain
- Chromosomes, Human, Pair 9
- Female
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Male
- Microsatellite Repeats
- Muscular Dystrophies
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Pregnancy
- Prenatal Diagnosis