1 patient data entry in database for clusters P587L and 2 in age group "adult". Entry # | Mutations | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | 36 | M603L2
| T251I P587L2
| PEO with ptosis, mild atrial hypertrophy. Sister had PEO. | | | 61 | 65 | n/a | Gonzalez-Vioque et al, 2006; [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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