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5 patient data entries in database for mutations P587L and G848S. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 27 | G848S1
| T251I
P587L2
| Ocular bulbar weakness, peripheral neuropathy, muscle weakness, CPEO, ptosis, hypothyroidism, abnormal muscle histology, abnormal muscle ultrastructure, large mitochondrial proliferation, ragged red fibers. 96% mtDNA copy number in blood. Patient II-44. | | - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 81 | n/a | Tang et al, 2011; [view data] | | 250 | G848S1
| T251I
P587L2
| PEO, severe ophthalmoplegia and ptosis, which appeared insidiously and had been present clinically since the age of 55. Muscle biopsy at age 68 revealed mitochondrial myopathy, as well as muscle inflammation with granulomas. multiple mtDNA deletions in muscle tissue. | | | 55 | 75 | n/a | Kollberg et al, 2005; [view data] | | 313 | G848S1
| T251I
P587L2
| progressively droopy eyelids, double vision, gait instability, proximal arm weakness, ragged red and ragged blue (succinate dehydrogenase–positive) fibers in about 3% and 6% of all muscle fibers, bilateral ptosis, diplopia, dysarthria, myopathy involving the facial muscles, sensory ataxic polyneuropathy | | | n/a | 80 | n/a | Weiss and Saneto, 2010; [view data] | | 604 | G848S1
| 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] | | 639 | G848S1
| T251I
P587L2
| Alpers | | | 0.5 | n/a | n/a | Wong et al, 2008; [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: 5
Avg age of onset in displayed cases: 54.1
Std dev in onset in displayed cases: 32.7
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