Title: | Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia |
Journal : | Brain : a journal of neurology, 139, 11 |
Authors: | Wan J, Author ; Steffen J ; Yourshaw M ; Mamsa H ; Andersen E ; Rudnik Schoneborn S ; Pope K ; Howell KB ; McLean CA ; Kornberg AJ ; Joseph J ; Lockhart PJ ; Zerres K ; Ryan MM ; Nelson SF ; Koehler CM ; Jen JC |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 2877 |
Languages: | English |
Keywords : | case studies ; gène SLC25A46 ; genetic mutations ; genotype-phenotype correlation ; mitochondrial proteins ; MRI ; optic atrophy ; pontocerebellar hypoplasia type 1 ; sensorimotor neuropathy ; zebrafish |
Keywords: | SLC25A46;mitochondria;optic atrophy spectrum disorder;pontocerebellar hypoplasia; |
Pubmed / DOI : | DOI : 10.1093/brain/aww212 / Pubmed : 27543974 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27543974 |
See also : |