TABLE 1.
Clinical and autopsy information of cases with the mt‐3243A>G mutation and disease controls.
| M1 | M2 | M3 | M4 | M5 | M6 | C1 | C2 | C3 | |
|---|---|---|---|---|---|---|---|---|---|
| mt‐3243G>A mutation | + | + | + | + | + | + | − | − | − |
| Sex | F | M | M | F | M | M | M | F | M |
| Age at onset (years old) | 19 | 53 | 35 | 13 | 24 | 32 | N/A | N/A | N/A |
| Age at death (years old) | 29 | 54 | 46 | 29 | 37 | 59 | 79 | 37 | 60 |
| Disease duration (years) | 10 | 1 | 11 | 16 | 13 | 27 | N/A | N/A | N/A |
| Family history | − | + | + | − | + | N/A | − | − | − |
| Height (cm) | 150 | 142 | 142 | 143 | 156 | 167 | N/A | 163 | 175 |
| Stroke‐like episodes | + | + | + | + | + | − | − | − | − |
| Lactic acid elevation | + | + | + | + | + | − | − | − | − |
| Diabetes mellitus | + | − | + | − | − | + | − | − | − |
| Hearing loss | + | + | + | + | + | + | − | − | − |
| Muscle weakness | + | + | − | + | + | + | − | − | − |
| Ragged‐red muscle fibers | N/A | + | N/A | N/A | N/A | N/A | − | − | − |
| Cognitive disturbance | + | − | + | − | − | + | − | − | − |
| Headache | N/A | N/A | + | + | + | − | − | − | − |
| Epilepsy | + | − | + | + | − | − | − | − | − |
| Myoclonus | + | N/A | − | − | + | N/A | − | − | − |
| Cerebellar ataxia | + | − | − | − | N/A | − | − | − | − |
| Sensory neuropathy | + | − | N/A | − | N/A | + | − | − | − |
| Autonomic failure | N/A | + | N/A | − | N/A | − | − | − | − |
| Cardiopathy | − | − | − | + | N/A | − | − | − | − |
| Complicating disease | − | SMAS | − | − | − | IPUF | − | SZ | − |
| Treatment for mitochondrial disease | LA | − | LA | N/A | N/A | N/A | − | − | − |
| Brain weight (grams) | 700 | 890 | 915 | 940 | 1200 | 1220 | 1190 | 1270 | 1460 |
Abbreviations: F, female; IPUF, idiopathic pulmonary upper lobe fibrosis; LA, L‐arginine; M, male; N/A, not applicable; SMAS, superior mesenteric artery syndrome; SZ, schizophrenia.