Spinocerebellar Ataxia 14 (SCA14)

Spinocerebellar Ataxia 14(来自ICD-11)
别称:
Spinocerebellar Ataxia Type 14
Sca14
Ataxia, Spinocerebellar, Type 14
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Spinocerebellar Ataxia 14, also known as spinocerebellar ataxia type 14, is related to kearns-sayre syndrome and movement disease, and has symptoms including memory loss and gait ataxia. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways/superpathways are Effects of PIP2 hydrolysis and PKC-gamma calcium signaling pathway in ataxia. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are gait ataxia and generalized hypotonia
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MALACARDS
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<1/1000000
14
162
51

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