Pure X-linked spastic paraplegia type 2 (Q97735): Difference between revisions
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Tipo de paraplegia espástica ligada ao X causada por mutação em PLP1 (proteína proteolipídica 1), que está associada a vias relacionadas a endocitose e diferenciação de células gliais. Caracterizada por danos ao cérebro, medula espinal e tecidos oculares, com sintomas de fraqueza muscular e hiperreflexia. | |||
| description / en | description / en | ||
Type of X-linked spastic paraplegia caused by mutation to PLP1 (Proteolipid Protein 1), which is associated with pathways related to endocytosis and glial cell differentiation. Characterized by damage to brain, spinal cord and eye tissues, with symptoms of muscle weakness and hyperreflexia. | |||
Revision as of 13:51, 16 August 2026
Type of X-linked spastic paraplegia caused by mutation to PLP1 (Proteolipid Protein 1), which is associated with pathways related to endocytosis and glial cell differentiation. Characterized by damage to brain, spinal cord and eye tissues, with symptoms of muscle weakness and hyperreflexia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1371630672 |
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| English | Pure X-linked spastic paraplegia type 2 |
Type of X-linked spastic paraplegia caused by mutation to PLP1 (Proteolipid Protein 1), which is associated with pathways related to endocytosis and glial cell differentiation. Characterized by damage to brain, spinal cord and eye tissues, with symptoms of muscle weakness and hyperreflexia. |
