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4 patient data entries in database for mutation H932Y. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 25 | H932Y1
| T251I
P587L2
| Peripheral neuropathy, exercise intolerance, muscle cramps after exercise, easy fatigability, arrythmia, CPEO, abnormal EMG/NCV, ptosis, cataract, abnormal muscle histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 123% mtDNA copy number in blood. | | - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 31 | n/a | Tang et al, 2011; [view data] | | 26 | H932Y1
| T251I
P587L2
| Peripheral neuropathy, ptosis, muscle weakness, CPK abnormalities. 77% mtDNA copy number in blood. | | | n/a | 41 | n/a | Tang et al, 2011; [view data] | | 202 | G1051R3
| H932Y1
| PEO, erectile dysfunction, progressive hearing loss, dysarthria, ataxic gait, Romberg sign, severe peripheral axonal sensorimotor polyneuropathy. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 18 | 35 | n/a | Mancuso et al, 2004a; [view data] | | 502 | H932Y1
| R386C
| Isolated distal myopathy of the upper extremities, cytochrome c oxidase deficient fibers, muscle weakness. mtDNA depletion. Reduced Deep tendon reflexes in the upper extremities. | | | 24 | 27 | n/a | Giordano et al, 2010; [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: 4
Avg age of onset in displayed cases: 28.5
Std dev in onset in displayed cases: 8.6
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