Medical Genetics Ι Neurology and mitochondrial diseases

Neurology and mitochondrial diseases

Alpers-Syndrome, Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis
POLG-Gene, MIM *174763

AMD-Risk,  Susceptibility for Age-related Macula Degeneration
(CFH-Gen, ARMS-2-Gen, C3-Gen, MTND2)

Chronic Progressive External Ophtalmoplegia
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

Hereditary Neuropathy with Liability to Pressure Palsies, Tomaculous Neuropathy, HNPP
Peripheral Myelin Protein 22, PMP22-Gen MIM *601097

Kearns-Sayre-Syndrome
KSS, mt-DNA Deletionen, MTTL-Gene, MIM* 590050

Leber's hereditary Opticus Neuropathy
LHON, MTND1-Gene, MIM *516000; MTND2-Gene, MIM *516001; MTND4-Gene, MIM 516004; MTND5-Gene, MIM *516005; MTND6-Gene, MIM *516005; MTCO1-Gene, MIM *516030; MTCO3-Gene, MIM *516050; MTATP6-Gene, *MIM 516060; MTCYB-Gene, MIM *516020

Leigh-Syndrome
Necrotizing Encephalopathy, LS, MTND2-Gene, *516001; MTND3-Gene, MIM *516003; MTND5-Gene, MIM *516005; MTND6-Gene, MIM *516006; NDUfV1-Gene, MIM *161015; NDUFS1-Gene, *157655.Gen; NDUFS3-Gene, MIM *603846; NDUFS4-Gene, MIM *602694; NDUIFS7-Gene, MIM *601825; NDUFS8-Gene, MIM *602141; NDUFA2-Gene, MIM *602137; C8ORT38-Gene, MIM *61492; SURF1-Gene, MIM 185620; MTATP6-Synthase-Gene, MIM 516060; MTTV-Gene, MIM *590105; MTTK-Gen. MIM *590060; MTTW-Gene, MIM *590095; MTTL1-Gene, MIM *590050

Mitochondrial Enzephalomyelopathy, Lactate Acidosis, stroke-like Symptoms, MELAS
MTTL1-Gene, MIM *590050; MTTQ-Gene, MIM *590030; MTTH-Gene, MIM *590040; MTTK-Gene, MIM *590060, MTTS1-Gene, MIM *590080; MTND1-Gene, MIM 516000; MTND5-Gene, MIM *515005; MTND6-Gene, MIM *516006; MTTS2-Gene, MIM *590085

Mitochondriale Enzephalomyopathy with "Ragged Red Fibers", MERRF
MTTL1-Gene, MTTH-Gene, MIM *590040; MTTK-Gene, MIM *590060, MTTS1-Gene, MIM *590080; MTND5-Gene, MIM *515005; MTTS2-Gene, MIM *590085; MTTF-Gene, MIM *590070

MtDNA Depletion-Syndrome, Hepatocerebral Form
Deoxyguanosine kinase, DGUOK-Gene, MIM *601465, MPV17-Gene, MIM *137960; Homolog of Mouse, MPV17-Gene, *137969; Chromosome 10 Open Reading Frame 2, C10ORF2-Gene, MIM *606075

Muscular Dystrophy Duchenne/Becker
Dystrophin-Gene, MIM 310200

Neuropathy, Ataxia und Retinitis Pigmentosa, NARP
MTATP6-Gene, MIM *516060

Pearson Syndrome, Sideroblastic Anemia with Marrow-cell Vacuolization and Exocrine Pancreatic Dysfunction
MTND4-Gene, MIM *516003; MTND5-Gene, MIM *516005

Spinal and Bulbare Musculare Atrophy, X-linked SBMA, SMAX1
Kennedy's Disease, CAG-Repeat, Androgen-Receptor-Gene, AR-Gene, MIM *313700