Pure X-linked spastic paraplegia type 2 (Q97735): Difference between revisions
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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. |
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CID11:ID_1371630672
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dki-india-ID_1371630672
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Concluído
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