Article
Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).
Neurology - 1 Dec 1990
Munsat T L, Skerry L, Korf B, Pober B, Schapira Y, Gascon G G, al-Rajeh S M, Dubowitz V, Davies K, Brzustowicz L M
Abstract excerpt
We made phenotypic analysis of 14 families with spinal muscular atrophy (SMA) linking to chromosome 5q11.2-13.3 (SMA 5q), and 2 that may not map to this locus, to assess clinical symptoms among SMA families known to result from mutation at the identical gene/locus. Although the current number of...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Consanguinity
- Female
- Humans
- Male
- Muscular Atrophy, Spinal
- Pedigree
- Phenotype