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1 patient data entry in database for mutations R1096C and L591F.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
sensory ataxic neuropathy, dysarthria, ophthalmoplegia, and dysphagia. At the age of 41, progressive diplopia and ptosis were added to the symptoms. Five years later, she gradually had dysarthria and restless leg syndrome. ragged red fibers.
-sensory ataxia
-ragged red fibers
3848n/aKurt et al, 2012;

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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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