Article
Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions.
Clinical genetics - 1 Jan 1994
Gerdes A M, Petersen M B, Schrøder H D, Wulff K, Brøndum-Nielsen K
Abstract excerpt
A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted by the...
Topics
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 17
- Family
- Female
- Genotype
- Humans
- Infant, Newborn
- Muscles
- Myopathies, Nemaline
- Pedigree
- Polymorphism, Restriction Fragment Length
- Translocation, Genetic