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14 patient data entries in database for clusters 2 and 3 in age group "adult". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 42 | L304R3
| P587L2
T251I
| PEO, myopathy, ataxia. | | - | movement disorder (ataxia) | |
| | 45 | 74 | n/a | Horvath et al, 2006; [view data] | | 43 | L304R3
| T251I
P587L2
| PEO, Neuropathy. Affect sibling. | | | 60 | 68 | n/a | Horvath et al, 2006; [view data] | | 45 | R807P3
| T251I
P587L2
| PEO | | | 46 | 47 | n/a | Di Fonzo et al, 2003; [view data] | | 46 | R807P3
| T251I
P587L2
| PEO, dysphagia | | | 45 | 52 | n/a | Di Fonzo et al, 2003; [view data] | | 47 | R807P3
| T251I
P587L2
| PEO, axonal sensorimotor polyneuropathy | | - | axonal sensorimotor polyneuropathy | |
| | 60 | 71 | n/a | Di Fonzo et al, 2003; [view data] | | 60 | A467T2
| L304R3
| sensory ataxic neuropathy, PEO, dysarthria. | | | 25 | n/a | n/a | Van Goethem et al, 2003a; [view data] | | 68 | R574W2
| W312R3
| PEO +dysphagia/myopathy. | | | 37 | n/a | n/a | Horvath et al, 2006; [view data] | | 234 | A467T2
| G268A3
| PEO, age of onset 65 years. | | | 65 | n/a | n/a | Di Fonzo et al, 2003; [view data] | | 292 | R275Q3
| A467T2
| presented with blurred vision, elevated CSF protein, she successively developed various neurological signs, ie, bilateral external ophthalmoplegia, ataxia, hearing impairment, and severe depression, ptosis, myopathy, cardiomyopathy, and dysphagia, Muscle biopsy performed at 63 years of age showed numerous ragged-red fibers and multiple mtDNA deletions | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 30 | 63 | n/a | Echaniz-Laguna et al, 2010; [view data] | | 515 | R1096C3
| L591F2
| sensory ataxic neuropathy, dysarthria, ophthalmoplegia, and dysphagia. At the age of 41, progressive diplopia and ptosis were added to the symptoms. Five years later, she gradually had dysarthria and restless leg syndrome. ragged red fibers. | | | 38 | 48 | n/a | Kurt et al, 2012; [view data] | | 570 | L304R3
| A467T2
| ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus. | | | 25 | 38 | n/a | Van Goethem et al, 2001; [view data] | | 571 | L304R3
| A467T2
| ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy. | | | 24 | 34 | n/a | Van Goethem et al, 2001; [view data] | | 601 | R807P3
| T251I
P587L2
| PEO, complicated by dysphagia, myopathy. | | | n/a | 71 | n/a | Del Bo et al, 2003; [view data] | | 603 | R309L3
| T251I
P587L2
| PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle. | | | n/a | n/a | n/a | Lamantea et al, 2002; [view data] |
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. Number of displayed patient cases: 14
Avg age of onset in displayed cases: 43.9
Std dev in onset in displayed cases: 15.4
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