Article
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jan 1992
Beggs A H, Neumann P E, Arahata K, Arikawa E, Nonaka I, Anderson M S, Kunkel L M
Abstract excerpt
Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3500...
Topics
- Abnormalities, Multiple
- Blotting, Western
- Chromosome Deletion
- Dystrophin
- Gene Expression
- Genes
- Genes, Recessive
- Genetic Linkage
- Heterozygote
- Humans