Autosomal recessive complex hereditary spastic paraplegia due to mutations in Spatacsin gene (Q99396): Difference between revisions
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Paraplegia espástica autossômica recessiva causada por uma mutação no gene Spatacsin, uma proteína transmembrana que é fosforilada após dano ao DNA. Causa da paraplegia espástica tipo 11 (SPG 11), que é caracterizada por fraqueza lenta, gradual e progressiva e espasticidade dos membros inferiores. | |||
| description / en | description / en | ||
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. | |||
Revision as of 16:03, 16 August 2026
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 |
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| default for all languages | ID_793405919 |
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| 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. |
