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| Neurologie und Mitochondriopathien |
| Chronisch progressive
externe Ophthalmoplegie (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) |
| Kearns-Sayre-Syndrom
inkl. Pearson Syndrom (KSS, mt-DNA Deletionen, mt-tRNA-Leu(UUR), MIM 590050) |
| Leber'sche hereditäre
Opticus Neuropathie (LHON, ND1, MIM 516000; ND2, MIM 516001; mt-CO1, MIM 516030; mt-ATP6, MIM 516060; mt-CO3, MIM 516050; ND4L, MIM 516004; ND5, MIM 516005; ND6, MIM 516006; mt-CYB, MIM 516020) |
| Leigh-Syndrom (nekrotisierende Enzephalomyelopathie, LS, SURF1, MIM 185620; ATP6-Synthase, MIM 516060; mt-tRNA(Val), MIM 590105) |
| Musculäre
Dystrophie Duchenne/Becker (Dystrophin-Gen, MIM 310200) |
| Myoklonische
Epilepsie, Stroke-like episodes, Lactatazidose (MELAS, mt-tRNA Leu (UUR) MIM 590050; mt-tRNA Val, MIM 590105; mt-tRNA Val, 590105; mt-tRNA Phe, MIM 590070; ND1, MIM 516000; ND2, MIM 515001; ND4, MIM 515003; ND5, MIM 516004; mt-CO3, MIM 516050; mt-CYB, MIM 516020) |
| Myoklonische
Epilepsie, red ragged fibers (MERRF, mt-tRNA Lys, MIM 590060) |
| Neuropathie,
Ataxie und Retinitis Pigmentosa (NARP, mt-ATP6, MIM 516060) |
| Pearson Syndrom (Sideroblastische Anämie, Marrow-Pancreas Syndrom, mtND4, MIM 516003; mtND5 516005) |
| Spinale und
Bulbare Muskuläre Atrophie SMAX1 (Kennedys Disease, Androgenrezeptor-Gen, CAG-Repeat, SMA, MIM313200) |
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