Article
Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.
Human heredity - 1 Jan 2000
Brzustowicz L M, Mérette C, Kleyn P W, Lehner T, Castilla L H, Penchaszadeh G K, Das K, Munsat T L, Ott J, Gilliam T C
Abstract excerpt
We have previously reported the mapping of the chronic (type II/intermediate and type III/mild/Kugelberg-Welander) form of the childhood-onset spinal muscular atrophies (SMA) to chromosome 5q11.2-13.3, with evidence for nonallelic genetic heterogeneity within a small sample of seven families [Brz...
Topics
- Adolescent
- Alleles
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Chronic Disease
- DNA, Satellite
- Female
- Genetic Linkage
- Genetic Variation
- Genotype
- Humans
- Lod Score
- Male
- Muscular Atrophy, Spinal
- Odds Ratio
- Pedigree