1 patient data entry in database for the exact mutation P1073L. Entry # | Mutations | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | 430 | | P1073L3
| Myopathy, myoclonic epilepsy, renal tubulopathy, muscle weakness, amyotrophy, myoclonic epilepsy and lipid accumulation. Cerebrospinal fluid and blood lactate concentrations were elevated. Muscle biopsy showed lipid myopathy with no biochemical RC deficiency and neither depletion nor deletions of mtDNA. | | | 5 | n/a | n/a | Rouzier et al, 2013; [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.
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