Article
Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis.
American journal of medical genetics - 11 Dec 1996
Kondo E, Saito K, Toda T, Osawa M, Yamamoto T, Kobayashi M, Fukuyama Y
Abstract excerpt
Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by a combination of primary muscular dystrophy of early infantile onset and brain malformation (lissencephaly type II). The identification of the FCMD gene locus at 9q31 opened the theoretical poss...
Topics
- Brain
- Female
- Genetic Counseling
- Genetic Linkage
- Haplotypes
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Microsatellite Repeats
- Muscular Dystrophies
- Pedigree
