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2 patient data entries in database for mutations T914P and PNF. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 692 | Splice site
mutation:
c.3104+3A>T
| T914P1
| bilateral ptosis. At the age of 37 years, he was found to have PEO. A year later, he had onset of muscle pain and examinations showed muscular atrophy and mitochondrial myopathy. Progressive mental fatigue was present from age 45 years. At the age of 55 years, he had dysarthria and dysphagia and severe muscle pain at activity that in combination with muscle weakness reduced his walking ability. progressive respiratory muscle weakness. | | | 20 | 63 | n/a | Roos et al, 2013; [view data] | | 693 | Splice site
mutation:
c.3104+3A>T
| T914P1
| onset of ptosis at the age of 50 years. moderate to severe weakness in proximal muscles of the upper and lower extremities and also reduced strength in tongue, facial, neck flexor and respiratory muscles. His verbal memory and psychomotor speed were profoundly reduced and he showed loss of initiative. Type II diabetes. | | | 50 | 65 | 71 | Roos 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. Number of displayed patient cases: 2
Avg age of onset in displayed cases: 35.0
Std dev in onset in displayed cases: 15.0
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