Neurology / Neuropediatrics
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Mitochondrial cytopathies (mutations del4977bp, G3460A, G11778A, T8993C, T8993G, A3271G, A3243G, T8356C, A8344G)
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Mitochondrial DNA depletion syndrome 1 (MNGIE type) (deletion/duplication analysis on TYMP gene)
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Mitochondrial DNA depletion syndrome 1 (MNGIE type) (sequence analysis of TYMP gene)
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Mitochondrial DNA depletion syndrome 13, encephalomyopathic type (MTDPS13, sequence analysis of FBXL4 gene)
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Mitochondrial DNA depletion syndrome 2 (sequence analysis of TK2 gene)
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Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (deletion/duplication analysis of POLG gene)
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Mitochondrial DNA depletion syndrome 4A-Alpers/4B-MNGIE (sequence analysis of POLG gene)
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Mitochondrial DNA depletion syndrome 4A/4B (A467T, W748S and G848S mutations on POLG gene)
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Mitochondrial DNA depletion syndrome 5 (sequence analysis of SUCLA2 gene)
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Mitochondrial DNA depletion syndrome 6, hepatocerebral type (deletion/duplication analysis on MPV17 gene)
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Mitochondrial DNA depletion syndrome 6, hepatocerebral type (sequence analysis of MPV17 gene)
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Mitochondrial DNA depletion syndrome 8 (sequence analysis of RRM2B gene)
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Mitochondrial DNA depletion syndrome 9 (sequence analysis of SUCLG1 gene)
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Mitochondrial DNA depletion syndrome type 11 (sequence analysis of MGME1 gene)
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Mitochondrial DNA depletion syndrome, hepatocerebral type (deletion/duplication analysis on DGUOK gene)
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Mitochondrial DNA depletion syndrome, hepatocerebral type (sequence analysis of DGUOK gene)
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Miyoshi muscular dystrophy 1 (deletion/duplication analysis of DYSF gene)
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Miyoshi muscular dystrophy 1 (sequence analysis of DYSF gene)
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Molybdenum cofactor deficiency A (sequence analysis of MOCS1 gene)
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Molybdenum cofactor deficiency B (sequence analysis of MOCS2 gene)
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