Mitochondrial Dna Depletion Syndrome 13 (MTDPS13)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Dna Depletion Syndrome 13, also known as fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome, is related to mitochondrial dna depletion syndrome and lactic acidosis, and has symptoms including seizures An important gene associated with Mitochondrial Dna Depletion Syndrome 13 is FBXL4 (F-Box And Leucine Rich Repeat Protein 4). Affiliated tissues include heart and brain, and related phenotypes are scoliosis and nystagmus

Related ID：

MALACARDS：MTC088

OMIM：615471

MESH：D017237