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1 patient data entry collated from reference Barthelemy et al, 2002. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 476 | | Y831C
| severe mitochondrial DNA depletion in muscle and kidney. Patient also has heteroplasmic mtDNA alterations including large-size deletions and point mutations in the D-loop region. Severe sensorineural deafness, intolerance to exercise and nephrotic syndrome. Retinitis pigmentosa, optic atrophy, ophthalmoplegia, epilepsy, mental deterioration and permanent muscle weakness with diffuse myalgia and respiratory distress. | | | n/a | 6 | 13 |
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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