A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Barøy, Tuva

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. [electronic resource] - European journal of medical genetics Jun 2016 - 342-6 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2016.05.005 doi


Child
DNA, Mitochondrial--genetics
Exome--genetics
F-Box Proteins--genetics
Fibroblasts--metabolism
Humans
Male
Metabolism, Inborn Errors--genetics
Mitochondrial Encephalomyopathies--epidemiology
Muscle, Skeletal--pathology
Mutation, Missense
Norway--epidemiology
Ubiquitin-Protein Ligases--genetics