Table 1 Summary of patient and muscle biopsy details. Het., historical homogenate m.3243 A > G heteroplasmy values from post-mortem tissue. CPEO, chronic progressive external ophthalmoplegia; MELAS, Mitochondrial myopathy, Encephalopathy, lLctic Acidosis, and Stroke-like episodes; OMIM, online Mendelian inheritance in man with phenotype # code; QD, quadriceps femoris; TA, tibialis anterior; M, male; F, female; N, number of biopsies; NA, not available.
From: Quantifying variability of mitochondrial markers in m3243A > G myopathy
Patient | Sex | Age (years) at diagnosis | Age (years) at death | Phenotype # OMIM | Clinical features | N biopsies | Het. (%) | ||
|---|---|---|---|---|---|---|---|---|---|
QD | TA | QD | TA | ||||||
P1 | M | 42 | 61 | MELAS syndrome # 540000 | Blindness (cortical), dysarthria, myopathy, cerebellar ataxia, neuropathy, pyramidal signs, cognitive impairment | 5 | 5 | 52 | NA |
P2 | M | 38 | 54 | MELAS syndrome # 540000 | Blindness (cortical), ptosis, CPEO, dysarthria, myopathy, cerebellar ataxia, pyramidal signs | 4 | 3 | 83 | 85 |
P3 | F | 34 | 53 | MELAS syndrome # 540000 | Dysarthria, myopathy, neuropathy, pyramidal signs | 6 | 5 | 72 | 64 |
P4 | F | 37 | 64 | MELAS syndrome # 540000 | Blindness (cortical), CPEO, dysarthria, myopathy, cerebellar ataxia, neuropathy, cognitive impairment | 1 | 2 | 77 | 86 |
