Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

doi:10.1007/s10545-015-9836-6

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Article

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

Journal of inherited metabolic disease - 1 Sept 2015

Huemer Martina, Karall Daniela, Schossig Anna, Abdenur Jose E, Al Jasmi Fatma, Biagosch Caroline, Distelmaier Felix, Freisinger Peter, Graham Brett H, Haack Tobias B, Hauser Natalie, Hertecant Jozef, Ebrahimi-Fakhari Darius, Konstantopoulou Vassiliki, Leydiker Karen, Lourenco Charles M, Scholl-Bürgi Sabine, Wilichowski Ekkehard, Wolf Nicole I, Wortmann Saskia B, Taylor Robert W, Mayr Johannes A, Bonnen Penelope E, Sperl Wolfgang, Prokisch Holger, McFarland Robert

Abstract excerpt

FBXL4 deficiency is a recently described disorder of mitochondrial maintenance associated with a loss of mitochondrial DNA in cells. To date, the genetic diagnosis of FBXL4 deficiency has been established in 28 individuals. This paper retrospectively reviews proxy-reported clinical and biochemica...

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Identifiers

PMID: 25868664
DOI: 10.1007/s10545-015-9836-6
PMCID: PMC4841446

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25868664-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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