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1 patient data entry collated from reference Bekheirnia et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 335 | | Y951N1
| bilateral cataracts, ovarian dysgenesis and distal muscle weakness and atrophy, progressive muscle weakness, seizure like episode, atrophy of arm and hand muscles, | | | 23 | 18 | 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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