FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Alternate names
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; Encephalomyopathic mitochondrial DNA depletion syndrome-13; MTDPS13; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; FBXL4 Deficiency; BXL4-Related Early-Onset Mitochondrial Encephalopathy
Definition
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins in infancy and affects multiple body systems. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy).
NIH genetic and rare disease info
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is a rare disease.
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