Article
Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.
American journal of human genetics - 1 Jul 1998
Campbell L, Daniels R J, Dubowitz V, Davies K E
Abstract excerpt
Spinal muscular atrophy (SMA) is a common fatal motor-neuron disorder characterized by degeneration of the anterior horn cells of the spinal cord, which results in proximal muscle weakness. Three forms of the disease, exhibiting differing phenotypic severity, map to chromosome 5q13 in a region of...
Topics
- Alleles
- Chromosomes, Human, Pair 5
- DNA Mutational Analysis
- Electrophoresis, Gel, Pulsed-Field
- Female
- Genotype
- Germ Cells
- Humans
- Male
- Microsatellite Repeats
- Mosaicism
- Multigene Family
- Muscular Atrophy, Spinal
- Pedigree
- Prenatal Diagnosis