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1 patient data entry in database for mutations A467T and R275Q.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
presented with blurred vision, elevated CSF protein, she successively developed various neurological signs, ie, bilateral external ophthalmoplegia, ataxia, hearing impairment, and severe depression, ptosis, myopathy, cardiomyopathy, and dysphagia, Muscle biopsy performed at 63 years of age showed numerous ragged-red fibers and multiple mtDNA deletions
-movement disorder (ataxia)
-ragged red fibers
-external ophthalmoplegia
3063n/aEchaniz-Laguna et al, 2010;

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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.

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Mutations Entry IDs Clusters Reference Residue range
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Use "PNF" for non-missense mutations.
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