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1 patient data entry collated from reference Bostan et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 442 | | P765T2
| drooping eyelids (without daytime fluctuation), slurred speech, dramatic weight loss, progressive gait instability, leg numbness and inability to feel the ground under her feet, anorexia, gastroparesis, peripheral neuropathy, sensory ataxia, SANDO. The patient's deceased mother had a similar bilateral ptosis, without any other ocular signs, her parents were not consanguineous. The patient has one healthy daughter. bilateral ptosis, complete ophthalmoplegia, optic discs atrophy. Flaccid type dysarthria, mild upper and lower limb muscle weakness with distal predominance. Deep tendon jerks were absent, plantar responses were flexor. Muscular tone was normal. | | - | movement disorder (ataxia) | |
| | 52 | 42 | 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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