Table 2 Clinical and molecular phenotypes from the patient derivation cohort.
From: Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
# | Gender (M/F) | Clinical phenotype | Age (years) | Sample type | Number of deletions | Molecular variants | Deletion profile pattern (score) |
|---|---|---|---|---|---|---|---|
P41 | F | Spinal amyotrophy type III | 3 | Mu | 2 | ND | Control (0.183) |
P42 | M | Chronic fatigue syndrome | 21 | Mu | 2 | ND | Control (0.379) |
P43 | F | Chronic fatigue syndrome | 31 | Mu | 2 | ND | Control (0.258) |
P44 | M | EXIT/myalgia | 35 | Mu | 16 | ND | Undetermined (0.541) |
P45 | F | Myalgia/abdominal pain/decreased visual acuity | 37 | Mu | 12 | ND | Control (0.071) |
P46 | M | Myalgia | 38 | Mu | 5 | ND | Control (0.035) |
P47 | M | Diabetes | 41 | Mu | 2 | ND | Control (0.266) |
P48 | M | Chronic fatigue syndrome | 42 | Mu | 2 | ND | Control (0.072) |
P49 | F | Myalgia | 54 | Mu | 8 | ND | Control (0.036) |
P50 | F | Retinopathy/walking disorders | 66 | Mu | 2 | ND | Patient (0.702) |
P51 | F | Bilateral ptosis/diabetes | 72 | Mu | 8 | ND | Undetermined (0.508) |
P52 | M | Myopathy polyneuropathy | 77 | Mu | 25 | ND | Patient (1.000) |
P53 | M | Dysphagia/dysarthria/ptosis, diploplia/sensitive neuropathy | 83 | Mu | 30 | POLG: c.752C>T (p.Thr251Ile) and c.1760C>T (p.Pro587Leu) | Patient (0.997) |
P54 | M | Ophthalmoplegia, dysphagia | 83 | U | 53 | TWNK: c.1511C>T (p.Ala504Val) | Patient (1.000) |
P55 | M | Ophthalmoplegia, dysphagia | 21 | Mu, U | 338/27 | POLG: c.925C>T (p.Arg309Cys) and c.1789C>T (p.Arg597Trp) | Patient (0.998) |
P56 | M | Ophthalmoplegia, dysphagia | 46 | U | 13 | TWNK: c.1121G>A (p.Arg374Gln) | Patient (1.000) |
P57 | M | Ophthalmoplegia | 53 | Mu | 16 | TWNK: c.1001G>A (p.Arg334Gln) | Patient (0.997) |
