Autosomal recessive complex hereditary spastic paraplegia due to mutations in Spatacsin gene (Q99396)
From determinar.ia.br - Determine suas informações
Autosomal recessive spastic paraplegia caused by a mutation in the Spatacsin gene, a transmembrane protein that is phosphorylated upon DNA damage. Cause of spastic paraplegia type 11 (SPG 11) that is characterized by slow, gradual, progressive weakness and spasticity of the lower limbs.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_793405919 |
||
| English | Autosomal recessive complex hereditary spastic paraplegia due to mutations in Spatacsin gene |
Autosomal recessive spastic paraplegia caused by a mutation in the Spatacsin gene, a transmembrane protein that is phosphorylated upon DNA damage. Cause of spastic paraplegia type 11 (SPG 11) that is characterized by slow, gradual, progressive weakness and spasticity of the lower limbs. |
