Article
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
American journal of human genetics - 1 Nov 1997
Wirth B, Schmidt T, Hahnen E, Rudnik-Schöneborn S, Krawczak M, Müller-Myhsok B, Schönling J, Zerres K
Abstract excerpt
Spinal muscular atrophy (SMA) is a relatively common autosomal recessive neuromuscular disorder. We have identified de novo rearrangements in 7 (approximately 2%) index patients from 340 informative SMA families. In each, the rearrangements resulted in the absence of the telomeric copy of the sur...
Topics
- Alleles
- Cyclic AMP Response Element-Binding Protein
- DNA Mutational Analysis
- Female
- Gene Conversion
- Gene Deletion
- Genes, Recessive
- Genetic Counseling
- Genetic Markers
- Haplotypes
- Humans