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2 patient data entries collated from reference Miguel et al, 2014. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 695 | Nonsense
mutation:
W486X
| T251I
P587L2
| slowly progressive bilateral blepharoptosis, severe PEO, dysphagia, facial diparesis and exercise intolerance, presented, at the age of 60, with left-dominant postural tremor, reduced left arm swing during gait, postural instability, axonal sensory polyneuropathy, CT showed diffuse cerebral atrophy. Parkinsons. | | | 66 | 46 | n/a | | 696 | | P648R5
R807C3
| progressive bilateral ptosis, unsteadiness gait and muscles weakness at the age of 39 and developed dysphagia and diplopia 3 years later. bilateral blepharoptosis, external ophthalmoparesis with diplopia on horizontal gaze, dysarthria and dysphagia at 44. distal limb muscles weakness, with depressed deep tendon reflexes, and impaired proprioception and vibration sense. Positive Romberg sign. axonal sensory polyneuropath, SANDO. parkinsonism, with hand rest tremor, moderate limb bradykinesia, cogwheel rigidity and hypomimic face. Multiple mtDNA deletions were detected. | | | 52 | 39 | 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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