Article
A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.
Neurology - 1 Mar 1995
Navon R, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin J C, Rondot P
Abstract excerpt
We describe two adult siblings who had had mild GM2 gangliosidosis since childhood. They presented with spinal muscular atrophy and dysarthria, and one sibling also had mental disturbances. Laboratory studies established the diagnosis of the B1 variant of GM2 gangliosidosis, because the hexosamin...
Topics
- Adult
- Base Sequence
- Female
- Hexosaminidase A
- Humans
- Male
- Molecular Sequence Data
- Muscular Atrophy, Spinal
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- beta-N-Acetylhexosaminidases