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5 patient data entries collated from reference Kaliszewska et al, 2015. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 651 | R309C3
| R290C
| SANDO. From the age of 31, she suffered from progressive external ophthalmoplegia, ptosis, dysarthria, weakness of upper and lower limbs and sensory ataxic neuropathy. Additionally, mental retardation was diagnosed. Nerve conduction studies indicated axonal sensory and motor neuropathy. MRI showed brain atrophy. Skeletal muscle biopsy disclosed ragged-red fibres. Analysis of mitochondrial DNA revealed multiple deletions in muscle tissue. Patient has a brother with same alleles and similar clinical history. Asymptomatic son with R309C. | | - | external ophthalmoplegia | |
| | 54 | 31 | n/a | | 652 | R869X1
| W748S5
| Alpers syndrome. At the age of 12 months, he became progressively ataxic and recurrent convulsions appeared, developing quickly to severe epileptic encephalopathy. Fulminant liver failure. Severe mitochondrial depletion found in the liver tissue on autopsy. | | | n/a | 1 | 2.5 | | 653 | Q968E
| R309L3
| progressive external ophthalmoplegia (PEO) and negative family history. At the age of 38, she observed impaired eye movements and ptosis. Skeletal muscle biopsy disclosed ragged red fibres. Multiple mtDNA deletions were present in muscle tissue. | | - | external ophthalmoplegia | |
| | 54 | 38 | n/a | | 654 | Frameshift:
Thr1053Argfs*6
| W748S5
| a psychomotor retardation and muscle hypotonia were observed since 2 months of age, and autistic behaviour was observed during early childhood. At the age of 3 years, the patient was given valproic acid due to episodes of unconsciousness and abnormal EEG pattern and responded suddenly with an acute liver failure. | | | n/a | 1.67 | 3.5 | | 655 | V1106A1
| W748S5
| SANDO. In spite of normal developmental milestones, the patient started to have walking difficulties at the age of 13 years. Her condition deteriorated, and she developed ataxic gait and dysarthria. Two years later, she developed action-exacerbated myoclonus. Nerve conduction studies showed sensorymotor polyneuropathy of lower limb nerves. | | - | movement disorder (ataxia) | |
| | 15 | 13 | n/a |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
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