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1 patient data entry in database for mutation K512M. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 443 | | K512M2
| Developed first neurologic problems in his thirties. Parkinsonism, bilateral ptosis, double vision, facial weakness, progressive ophthalmoplegia, shuffling gait and overall slowness of movements. He experienced a gradual progression of his rigidity, bradykinesia without any significant asymmetry, hypophonia and within 10–15 years he also developed camptocormia with subsequent postural instability. Dementia diagnosed at the age of 75 years. Family history was positive for external ophthalmople- gia and Parkinson’s disease diagnosed in his father and brother. | | | 30 | 79 | n/a | Dolhun et al, 2013; [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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