Neurology / Neuropediatrics

• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (sequence analysis of ATPAF2 gene) + info
   
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (deletion/duplication analysis on TMEM70 gene) + info
   
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (sequence analysis of TMEM70 gene) + info
   
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (sequence analysis of ATP5E gene) + info
   
• Mitochondrial cytopathies (mutations del4977bp, G3460A, G11778A, T8993C, T8993G, A3271G, A3243G, T8356C, A8344G) + info
   
• Mitochondrial DNA depletion syndrome 1 (MNGIE type) (deletion/duplication analysis on TYMP gene) + info
   
• Mitochondrial DNA depletion syndrome 1 (MNGIE type) (sequence analysis of TYMP gene) + info
   
• Mitochondrial DNA depletion syndrome 13, encephalomyopathic type (MTDPS13, sequence analysis of FBXL4 gene) + info
   
• Mitochondrial DNA depletion syndrome 2 (sequence analysis of TK2 gene) + info
   
• Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene) + info
   
• Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (sequence analysis of POLG gene) + info
   
• Mitochondrial DNA depletion syndrome 4A/4B (A467T, W748S and G848S mutations on POLG gene) + info
   
• Mitochondrial DNA depletion syndrome 5 (sequence analysis of SUCLA2 gene) + info
   
• Mitochondrial DNA depletion syndrome 6, hepatocerebral type (deletion/duplication analysis on MPV17 gene) + info
   
• Mitochondrial DNA depletion syndrome 6, hepatocerebral type (sequence analysis of MPV17 gene) + info
   
• Mitochondrial DNA depletion syndrome 8 (sequence analysis of RRM2B gene) + info
   
• Mitochondrial DNA depletion syndrome 9 (sequence analysis of SUCLG1 gene) + info
   
• Mitochondrial DNA depletion syndrome type 11 (sequence analysis of MGME1 gene) + info
   
• Mitochondrial DNA depletion syndrome, hepatocerebral type (deletion/duplication analysis on DGUOK gene) + info
   
• Mitochondrial DNA depletion syndrome, hepatocerebral type (sequence analysis of DGUOK gene) + info
   

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