Myoclonic Epilepsy Myopathy Sensory Ataxia (SCA)

Myoclonic Epilepsy Myopathy Sensory Ataxia(来自ICD-11)
别称:
Spinocerebellar Ataxia with Epilepsy
Scae
Mitochondrial Spinocerebellar Ataxia with Epilepsy
Memsa
Mscae
Sca
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myoclonic Epilepsy Myopathy Sensory Ataxia, also known as spinocerebellar ataxia with epilepsy, is related to sensory ataxic neuropathy, dysarthria, and ophthalmoparesis and autosomal dominant cerebellar ataxia. An important gene associated with Myoclonic Epilepsy Myopathy Sensory Ataxia is POLG (DNA Polymerase Gamma, Catalytic Subunit). Affiliated tissues include cerebellum and brain, and related phenotypes are ptosis and depression
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基础信息

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参考文献
MALACARDS
AR
Child
--
2
12
18

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