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2 patient data entries in database for clusters 3 and 3 in age group "juvenile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 58 | L304R3
| L304R3
| Peripheral neuropathy exercise intolerance, muscle weakness, easy fatigability, abnormal EMG/NCV, ptosis, CPK abnormalities, short stature, abnormal muscle histology, ragged red fibers, elevated pyruvate. 45% mtDNA copy number in blood. | | - | abnormal muscle histology | |
| | n/a | 23 | n/a | Tang et al, 2011; [view data] | | 418 | R309C3
| R309C3
| Peripheral neuropathy, PEO, ataxia, myopathy, fatty liver, pigmentary neuropathy, strokes, epilepsy, dysarthria-dysphonia | | - | movement disorder (ataxia) | |
| | 14 | n/a | 22 | Amiot et al, 2009; [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: 2
Avg age of onset in displayed cases: 18.5
Std dev in onset in displayed cases: 4.5
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