Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

Published:2018-10 Issue:10 Volume:20 Page:1224-1235
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Boczonadi Veronika,King Martin S.,Smith Anthony C.,Olahova Monika,Bansagi Boglarka,Roos Andreas,Eyassu Filmon,Borchers Christoph,Ramesh Venkateswaran,Lochmüller Hanns,Polvikoski Tuomo,Whittaker Roger G.,Pyle Angela,Griffin Helen,Taylor Robert W.,Chinnery Patrick F.,Robinson Alan J.,Kunji Edmund R.S.,Horvath Rita

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2017251.pdf

Reference41 articles.

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