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2 patient data entries collated from reference Echaniz-Laguna et al, 2010.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
291T914A1
Y452C
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, multiple mtDNA deletions in muscle
-movement disorder (ataxia)
-myopathy
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-dysphagia
adult
5637n/a
292R275Q3
A467T2
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
-myopathy
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-dysphagia
adult
6330n/a

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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