Locus | Disease | Allele | Nucleotide Position |
Nucleotide Change |
Amino Acid Change | Homo-plasmy | Hetero-plasmy | Status | References |
---|
LHON | Leber Hereditary Optic Neuropathy | MM | Mitochondrial Myopathy |
AD | Alzeimer's Disease | LIMM | Lethal Infantile Mitochondrial Myopathy |
ADPD | Alzeimer's Disease and Parkinsons's Disease | MMC | Maternal Myopathy and Cardiomyopathy |
NARP | Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease | FICP | Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy |
MELAS | Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes | LDYT | Leber's hereditary optic neuropathy and DYsTonia |
MERRF | Myoclonic Epilepsy and Ragged Red Muscle Fibers | MHCM | Maternally inherited Hypertrophic CardioMyopathy |
CPEO | Chronic Progressive External Ophthalmoplegia | KSS | Kearns Sayre Syndrome |
DM | Diabetes Mellitus | DMDF | Diabetes Mellitus + DeaFness |
CIPO | Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia | DEAF | Maternally inherited DEAFness or aminoglycoside-induced DEAFness |
PEM | Progressive encephalopathy | SNHL | SensoriNeural Hearing Loss |