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1 patient data entry in database for mutations P648R and PNF. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 694 | Nonsense
mutation:
W585X
| P648R5
| Parkinsons. Slowly progressive bilateral blepharoptosis, external ophthalmoplegia, dysphagia and dysarthria, presented with right-dominant parkinsonian features at age 56, comprising hand and lower limb rest tremor, mild upper limb cogwheel rigidity, right foot dystonic movements, hypomimic face and postural instability. impairment of vibration and pinprick sensations in glove-stocking distribution and absence of lower limb tendon reflexes. decline in attention and visuospatial functions. Axonal sensory polyneuropathy. ragged red fibers, multiple mtDNA deletions, | | - | external ophthalmoplegia | |
| | 56 | 64 | n/a | Ferreira et al, 2011; [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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