- Clinical phenotypes due to m.3243A>G mutation in the tRNALeu gene (UUR).
| Syndromic phenotypes | Non-syndromic symptoms | |
|---|---|---|
| Neurological disorders | MELAS, LS, MELAS/LS, KSS, CPEO, MERRF, NARP, | Migraine, cerebella ataxia, seizures, autism, depression, anxiety, mental retardation, tension-type cluster headaches, polyneuropathy, myelopathy, calcification of basal ganglia |
| Muscle disorders | CPEO, MERRF | exercise intolerance, muscle atrophy, myalgia, muscle cramp, hypercreatine kinase Hypertrophic cardiomyopathy, dilated cardiomyopathy, conduction |
| Cardiovascular disorders | SADS, WPW syndrome, | block, ventricular extrasystoles, supraventricular tachycardia, atrial fibrillation, regurgitation of various valves |
| Endocrine disorders | MIDD | Diabetes, growth hormone deficiency, hyperparathyroidism, hypoparathyroidism hypogonadism, hypothyroidism |
| Ocular impairment | NARP, CPEO | Pigmentary retinopathy, cortical blindness, visual field defect, night blindness, cataract, macular dystrophy and optic atrophy |
| Otolaryngologic impairment | MIDD | sensorineural hearing loss; bilateral vestibular loss |
| Digestive system | IPO | Vomiting, diarrhea, constipation, acute pancreatitis, celiac disease |
| Kidney impairment | none | renal failure, nephropathy, maternal hereditary recurrent kidney stone, renal tubular acidosis |
| Pregnancy and delivery | none | Miscarriage, gestational diabetes, premature delivery, intrauterine growth retardation, preeclampsia, cesarean section |
| Others | none | short statures, stuttering, hypertriglyceridaemia, hair loss, Hypertrichosis, Dark complexion |
MELAS - mitochondrial encephalomyopathy, lactic acidosis, stroke-like attack; LS - Leigh syndrome; KSS - Keams- Sayre syndrome; CPEO - chronic progressive external ophthalmoplegia; NARP - neurogenic weakness, ataxia, and retinitis pigmentosa; MERRF - myoclonic epilepsy and ragged-red fiber disease; SADS - sudden adult death syndrome; WPW - Wolff-Parkinson-White syndrome; MIDD - Maternally Inherited Diabetes and Deafness; IPO - Intestinal pseudo-obstruction