Table 4.
MtDNA Contents and Clinical and Laboratory Findings of the Patients Analyzed by Real-Time qPCR
| Patient | Sex | Clinical and laboratory findings | Age (years) | % of age matched mean | mtDNA content (mtDNA-to-B2M ratio)
|
||
|---|---|---|---|---|---|---|---|
| Del | Non-Del | Del/(Non-Del) | |||||
| 201 | F | Hypotonia, seizures, muscle weakness, developmental delay, failure to thrive | 3.3 | 10.2 | 208 | 203 | 1.0233 |
| 202 | M | Complex I,II/III, and IV deficiency, hypotonia, areflexic, myopathy | 6 | 7.8 | 259 | 260 | 0.9992 |
| 203 | M | Developmental delay, hypotonia, ketosis, lactic acidosis, ragged-red fibers | 0.3 | 1.6 | 24 | 25 | 0.9770 |
| 204 | F | Cardiomyopathy | 2.7 | 52 | 1017 | 1029 | 0.9884 |
| 205 | M | Developmental delay, seizures, hypotonia, ataxia, abnormal MRI, muscle weakness, lactic acidosis, CEPO, DM, SNHL | 2.7 | 53 | 1085 | 1051 | 1.0321 |
| 206 | F | Developmental delay, hypotonia, ataxia, cardiomyopathy | 4 | 121 | 2435 | 2408 | 1.0111 |
| 207 | F | Lactic acidosis, ophthalmoparesis, lethargy, MELAS | 3 | 205 | 4119 | 4071 | 1.0118 |
| 208 | M | Congenital muscular dystrophy, failure to thrive, hypotonia | 0.5 | 414 | 6409 | 6465 | 0.9913 |
| 209 | F | Mitochondrial proliferation | 36 | 549 | 17966 | 18147 | 0.9900 |
| 210 | F | Developmental delay, hypotonia, dementia, migraine, exercise intolerance, abnormal brain MRI | 17 | 672 | 21795 | 21884 | 0.9959 |
| 211 | F | Developmental delay, perinatal insult, abnormal brain MRI | 2 | 161 | 3237 | 3183 | 1.0169 |
| 212 | M | Developmental delay, seizures, abnormal brain MRI, lactic acidosis | 1.2 | 154 | 2420 | 2404 | 1.0066 |
| 213 | F | Hearing loss, hypoglycemia, abnormal brain MRI | 30 | 160 | 5274 | 5321 | 0.9911 |
| 214 | F | Ataxia, myoclonus, muscle weakness, exercise intolerance, diarrhea | 34 | 56 | 1828 | 1827 | 1.0006 |
| 215 | F | Muscle weakness, exercise intolerance | 57 | 192 | 6625 | 6649 | 0.9964 |
| 216 | F | Muscle weakness, ragged-red fibers, mitochondrial proliferation | 50 | 119 | 4130 | 4112 | 1.0044 |
| 217 | M | Neuropathy, muscle weakness, retinitis pigmentosa, hearing loss | 87 | 73 | 2450 | 2493 | 0.9830 |
| 218 | F | Ragged-red fibers, increased lipid | 62 | 110 | 3724 | 3759 | 0.9908 |
CEPO, chronic progressive external ophthalmoplegia; DM, diabetes mellitus; SNHL, sensorineural hearing loss; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; Non-Del, nondeleted region (mean of tRNA leuUUR and D-loop region); Del, commonly deleted region (ND4 or ATP8, whichever is lower); Age-matched mean, the same as described in the footnote of Table 2.