CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

3-methylglutaconic aciduria (3-MGA-uria) is a nonspecific finding associated with mitochondrial dysfunction, including defects of oxidative phosphorylation. 3-MGA-uria is classified into five groups, of which one, type IV, is genetically heterogeneous. Here we report five children with a form of typ...

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Publicat a:Am J Hum Genet
Autors principals: Saunders, Carol, Smith, Laurie, Wibrand, Flemming, Ravn, Kirstine, Bross, Peter, Thiffault, Isabelle, Christensen, Mette, Atherton, Andrea, Farrow, Emily, Miller, Neil, Kingsmore, Stephen F., Ostergaard, Elsebet
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4320254/
https://ncbi.nlm.nih.gov/pubmed/25597511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.12.020
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