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5 patient data entries collated from reference Scuderi et al, 2015. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 530 | P116Q
| T251I
P587L2
| He presented migraine by age 7 and complained of fatigue during exercise by age 12. mild diffuse muscle hypotonia and flat feet. ptosis at 14. Brain MRI showed mild white matter hyperintensity. | | | 14 | 7 | n/a | | 531 | P116Q
| T251I
P587L2
| delayed psychomotor development. At age 3, neurological examination showed muscular hypotonia, joint laxity, absent deep tendon reflexes, broadbased gait, scapular winging, accentuation of lumbar lordosis and flat feet. intellectual disability. progressive cognitive impairment. mild myopathy. | | | 8 | 3 | n/a | | 532 | | T251I
P587L2
| leg pain after physical activity. mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. Borderline intellectual functioning. | | | 10 | n/a | n/a | | 533 | | T251I
P587L2
| Presented deafness from childhood. migraine and fatigue. On neurological examination she had mild diffuse muscle weakness. Audiometric examination disclosed neurosensorial hypoacusia. mild anxiety with specific phobias concerning indoor environment and crowd. | | | 37 | 29 | n/a | | 534 | | P116Q
| By age 38 he complained fatigue. At the age of 40 he presented diabetes mellitus. Deep tendon reflexes were absent on neurological examination. | | | 42 | 38 | 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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