Pure X-linked spastic paraplegia type 2 (Q97735)

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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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ID_1371630672
    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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      15 August 2026
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