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2 patient data entries collated from reference Gonzalez-Vioque et al, 2006. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 36 | M603L2
| T251I
P587L2
| PEO with ptosis, mild atrial hypertrophy. Sister had PEO. | | | 65 | 61 | n/a | | 131 | D1184N1
| N468D2
| PEO and tetraparesis, serum CK level elevated. | | | n/a | 32 | n/a |
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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