Neurologie und Mitochondriopathien
Alpers-Syndrom, frühkindliche Hepatoenzephalopathie
(POLG-Gen, MIM *174763)
AMD-Risiko, Suszeptibilität für altersbedingte Makuladegeneration
(CFH-Gen, ARMS-2-Gen, C3-Gen, MTND2)
Chronisch progressive externe Ophtalmoplegie
(CPEO, mt-tRNA-Leu(UUR), MIM *590050; mt-tRNA Ile, MIM *590045; mt-tRNA Leu(CUN), MIM *590055; mt-tRNA Ala, MIM *590000; mt-tRNA Asn, MIM *590010)
Hereditäre Neuropathie mit Neigung zu Drucklähmungen, Tomakulöse Neuropathie, HNPP
(Peripheral Myelin Protein 22, PMP22-Gen MIM *601097)
Kearns-Sayre-Syndrom einschließlich Pearson Syndrome
(KSS, mt-DNA Deletionen, MTTL-Gen, MIM* 590050)
Leber hereditäre Optikus Neuropathie
(LHON, MTND1-Gen, MIM *516000; MTND2-Gen, MIM *516001; MTND4-Gen, MIM 516004; MTND5-Gen, MIM *516005; MTND6-Gen, MIM *516005; MTCO1-Gen, MIM *516030; MTCO3-Gen, MIM *516050; MTATP6-Gen, *MIM 516060; MTCYB-Gen, MIM *516020)
Leigh-Syndrom
(Necrotisierende Encephalopathie, LS, MTND2, *516001; MTND3-Gen, MIM *516003; MTND5-Gen, MIM *516005; MTND6-Gen, MIM *516006; NDUfV1-Gen, MIM *161015; NDUFS1-Gen, *157655.Gen; NDUFS3-Gen, MIM *603846; NDUFS4-Gen, MIM *602694; NDUIFS7-Gen, MIM *601825; NDUFS8-Gen, MIM *602141; NDUFA2-Gen, MIM *602137; C8ORT38-Gen, MIM *61492; SURF1-Gen, MIM 185620; MTATP6-Synthase-Gen, MIM 516060; MTTV-Gen, MIM *590105; MTTK-Gen. MIM *590060; MTTW-Gen, MIM *590095; MTTL1-Gen, MIM *590050)
Mitochondriale Enzephalomyelopathie, Laktat Azidose, schlaganfallähnliche Symptome, MELAS
(MTTL1-Gen, MIM *590050; MTTQ-Gen, MIM *590030; MTTH-Gen, MIM *590040; MTTK-Gen, MIM *590060, MTTS1-Gen, MIM *590080; MTND1-Gen, MIM 516000; MTND5-Gen, MIM *515005; MTND6-Gen, MIM *516006;MTTS2-Gen, MIM *590085)
Mitochondriale Enzephalomyopathie mit „Ragged Red Fibers, MERRF
(MTTL1-Gen, MTTH-Gen, MIM *590040; MTTK-Gen, MIM *590060, MTTS1-Gen, MIM *590080; MTND5-Gen, MIM *515005; MTTS2-Gen, MIM *590085; MTTF-Gen, MIM *590070)
MtDNA Depletion-Syndrom, hepatocellebrär Form
(DGUOK-Gen, MIM *601465, MPV17-Gen, MIM *137960, C10ORF2-Gen, MIM *606075)
Musculäre Dystrophie Duchenne/Becker
(Dystrophin-Gen, MIM 310200)
Neuropathie, Ataxie und Retinitis Pigmentosa, NARP
(MTATP6-Gen, MIM *516060)
Pearson Syndrom, Sideroblastische Anämie, Marrow-Pancreas Syndrom
(MTND4-Gen, MIM *516003; MTND5-Gen, MIM *516005)
Spinale and bulbäre muskuläre Atrophie SBMA, SMAX1
(Kennedy's Disease, CAG-Repeat, Androgen-Receptor-Gen, AR-Gen, MIM *313700 )