|
4 patient data entries in database for the exact mutation Y831C. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 236 | | Y831C
| Presented with progressive bilateral ptosis, diplopia, muscle weakness, and exercise intolerance at 28 years of age. Ophthalmoplegia and severe bilateral ptosis developed by age 44, sensory neuropathy at age 45, and at age 47 she developed slowly progressive resting hand tremor, slowing of her gait, bradykinesia, rigidity, and slurred speech. Muscle biopsy showed numerous ragged-red fibers and Southern blot analysis showed multiple deletions of mtDNA. insipient parkinsonism. | | | 28 | 49 | n/a | Mancuso et al, 2004b; [view data] | | 352 | | Y831C
| CPEO, Seizures, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastric and small bowel dysmotility after a colectomy, and multiple admissions for recurrent pseudo-obstruction, proximal myopathy, | | - | movement disorder (ataxia) | |
| | n/a | 34 | n/a | Woodbridge et al, 2012; [view data] | | 353 | | Y831C
| Seizures, liver function tests change, migraine, increasing proximal weakness and myalgia, mild asymmetrical ptosis | | | n/a | 46 | n/a | Woodbridge et al, 2012; [view data] | | 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. | | | 6 | n/a | 13 | Barthelemy et al, 2002; [view data] |
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: 4
Avg age of onset in displayed cases: 28.5
Std dev in onset in displayed cases: 14.5
|