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2 patient data entries in database for mutations T914P and PNF.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
692Splice site
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.
-muscle weakness
-mitochondrial myopathy
2063n/aRoos et al, 2013;

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693Splice site
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.
506571Roos et al, 2013;

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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

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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