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 possibility of prenatal diagnosis. The authors conducted prenatal diagnosis in two unrelated FCMD families by analysis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.