Family
|
Clinical presentation
|
Tissue
|
Deleted mtDNA
|
Deletion extent
|
HVS-I haplotype
|
P1 | Pearson syndrome | Lymphocytes | 90% | 8484–13460 | 239G 256 311 |
M1 | | | | | 239G 256 311 |
F1 | | | | | 069 097G 104A 126 261 |
|
P2 | Villous atrophy + | Muscle | 90% | 10665–14856 | CRS |
M2 | encephalomyopathy | | | | CRS |
F2 | | | | | CRS |
|
P3 | Villous atrophy + | Lymphocytes | 30% | 10744–14124 | 291 |
M3 | encephalomyopathy | | | | 291 |
F3 | | | | | 224 270 |
|
P4 | Progressive | Lymphocytes | 90% | (Multiple deletions) 7845–15761, 7931–15761, 7619–15032, 9844–16064, 9966–15801 | 126 193 278 |
M4 | encephalomyopathy | | | 126 193 278 |
F4 | | | | 298 311 |
| | | | |
P5 | Pearson syndrome | Bone marrow | 80% | 5793–12767 | 069 126 145 222 261 |
M5 | | | | | 069 126 145 222 261 |
F5 | | | | | 069 126 145 222 261 |
|
P6 | Pearson syndrome | Lymphocytes | 85% | 8484–13460 | 224 311 362 |
M6 | | | | | 224 311 362 |
F6 | | | | | 192 224 311 |