Article
Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus.
Neurology - 1 Sept 1991
Kleyn P W, Brzustowicz L M, Wilhelmsen K C, Freimer N B, Miller J M, Munsat T L, Gilliam T C
Abstract excerpt
The disease locus for the clinically heterogeneous childhood spinal muscular atrophies (SMA) maps to the chromosome 5 subregion, 5q11.2-13.3. The beta-subunit of beta-D-N-acetylhexosaminidase (hexosaminidase) (EC 3.2.1.52) (Hex B) maps to the same region, and the protein required for substrate recognition by this enzyme, GM2-activator protein, likewise maps to chromosome 5. We have investigated the possibility of...
Topics
- Amino Acid Sequence
- DNA
- Electrophoresis
- G(M2) Activator Protein
- Gene Amplification
- Genes
- Hexosaminidase B
- Humans
- Molecular Sequence Data
- Muscular Atrophy, Spinal
- Mutation