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1 patient data entry collated from reference Betts-Henderson et al, 2009. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 574 | G848S1
| S1104C1
| The patient first presented at the age of 22 years with left-sided ptosis, which slowly progressed over the next 20 years to an almost complete ophthalmoplegia. He developed proximal muscle weakness at age 50 and his first Parkinsonian features at age 51. rigidity, tremor, bradykinesia and difficulty performing fine motor tasks. Proximal myopathy. sensorimotor neuropathy. Dysphagia. | | | 57 | 22 | 59 |
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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