A case of mitochondrial membrane protein associated neurodegeneration due to a novel mutation


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KESKİN YILMAZ S. , GAZETECİ TEKİN H., SERDAROGLU G., TEKGÜL H. , CEYLANER S., GÖKBEN S.

11. EUROPEAN PEDIATRIC NEUROLOGY SOCIETY CONGRESS, 27 - 30 May 2015 identifier identifier identifier

  • Publication Type: Conference Paper
  • Doi Number: 10.1093/brain/awg174
  • Keywords: Mohr-Tranebjaerg syndrome, deafness-dystonia peptide (DDP1), progressive neurodegeneration, TIMM8a gene, mitochondrial pre-protein import, MOHR-TRANEBJAERG-SYNDROME, MENTAL DEFICIENCY, BLINDNESS, MITOCHONDRIA, ATROPHY, COMPLEX, DEFECT, CORTEX, IMPORT, TIM23