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1 patient data entry in database for mutation H945L. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 481 | | H945L1
| 80-year old female patient with a history of PEO, ptosis, childish behaviour, obsessive disorder, cognitive decline, and parkinsonism. Progressive bilateral ptosis in her forties. She also suffered progressive cognitive decline, with difficulties in performing her habitual tasks and a degree of social impairment. In addition, a loss of facial expression had become evident in the last few years. Physical examination showed bilateral ptosis with right predominance, PEO, dysphonia, right hand rest tremor, bilateral mild rigidity and bradykinesia in the upper extremities. A brain MRI scan revealed moderate enlargement of the ventricles and diffuse brain atrophy. muscle biopsy of the biceps brachii demonstrated ragged red fibres based on Gomori staining. Southern blot hybridization analysis identified multiple mtDNA deletions that were confirmed using the long-PCR technique. | | | 30 | 80 | n/a | Delgado-Alvarado et al, 2015; [view data] |
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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