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6 patient data entries collated from reference Ferreira et al, 2011. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 44 | P648R5
| T251I
P587L2
| Ptosis, oculopharyngeal muscular dystrophy-like, pigmentary retinopathy. | | | 67 | 59 | n/a | | 77 | W918R1
| M430L1
| Onset at 32 years with ptosis, PEO. | | | n/a | 32 | n/a | | 150 | R807C3
| P648R5
| Onset at 39 years with SANDO. | | | n/a | 39 | n/a | | 195 | R1081Q3
| A862T1
| Onset at 2.5 years with epilepsy, diagnosed as Alpers. Complex IV 33%. showed psychomotor regression around age 2.5 years, and developed repetitive generalized tonic–clonic seizures. Myoclonic jerks. | | | 7 | 3 | n/a | | 220 | | R1081Q3
| Muscle weakness, unsteady gait, ataxia, stiff legs, resting tremor, diabetes mellitus. Complex I 50%, Complex IV 45%. de novo mutation. Slight cerebellar atrophy. | | - | movement disorder (ataxia) | |
| | 25 | 16 | n/a | | 694 | Nonsense
mutation:
W585X
| P648R5
| Parkinsons. Slowly progressive bilateral blepharoptosis, external ophthalmoplegia, dysphagia and dysarthria, presented with right-dominant parkinsonian features at age 56, comprising hand and lower limb rest tremor, mild upper limb cogwheel rigidity, right foot dystonic movements, hypomimic face and postural instability. impairment of vibration and pinprick sensations in glove-stocking distribution and absence of lower limb tendon reflexes. decline in attention and visuospatial functions. Axonal sensory polyneuropathy. ragged red fibers, multiple mtDNA deletions, | | - | external ophthalmoplegia | |
| | 64 | 56 | 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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