Condition: FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
rs1182326570 in
FBXL4 gene and
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
PMID 23993194 2013 Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
PMID 27858371 2017 Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.
PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID 25868664 2015 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
PMID 23993193 2013 Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
PMID 27743463 2017 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
PMID 27099744 2016 Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 27182309 2019 Influence of Body Composition, Oral Contraceptive Use, and Physical Activity on Bone Mineral Density in Premenopausal Women.