Mitochondrial Dna Depletion Syndrome 13 (MTDPS13)

线粒体DNA耗竭综合征（脑肌病型）13型(来自ICD-11)

别称:

Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome

Fbxl4 Deficiency

Mtdps13

Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies

Mtdna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies

Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type

Fbxl4-Related Early-Onset Mitochondrial Encephalopathy

Fbxl4-Related Early Onset Mitochondrial Encephalopathy

Mitochondrial Dna Depletion Syndrome, Type 13

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

线粒体DNA耗竭综合症13，也称为fbxl4相关脑肌病性线粒体DNA耗竭综合症，与线粒体DNA耗竭综合症和乳酸酸中毒有关，症状包括癫痫发作。与线粒体DNA耗竭综合症13有关的重要基因是FBXL4（F-Box和Leucine Rich Repeat蛋白4）。相关组织包括心脏和大脑，相关表型为脊柱侧弯和眼震。

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