|
5 patient data entries in database for clusters 1 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 | | | 70 | R869Q1
| K319E3
| Headaches/migraines, ataxia, peripheral neuropathy, muscle weakness, CPEO, abnromal EMG/NCV, ptosis, CPF abnormalities, abnormal histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 114% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | abnormal muscle ultrastructure | |
| | n/a | 44 | n/a | Tang et al, 2011; [view data] | | 194 | R1047W3
| A862T1
| PEO with ataxia, SCA-like phenotype in siblings, multiple deletions in muscle mtDNA detected via LPCR. 3% COX deficient fibers. | | - | movement disorder (ataxia) | |
| | 61 | n/a | n/a | Stewart et al, 2009; [view data] | | 331 | R943C1
| H277L3
| left dominant hemi-parkinsonian features, bradykinesia, gait disturbance, resting tremor and postural instability, chronic progressive external ophthalomoplegia among mitochondrial myopathies | | - | movement disorder (ataxia) | |
| | 50 | 78 | n/a | Sato et al, 2011; [view data] | | 357 | R1047W3
| A862T1
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, dysarthria, Axonal sensory neuropathy /neuronopathy, Distal and proximal neurogenic change. | | - | movement disorder (ataxia) | |
| | 22 | 61 | n/a | Lax et al, 2012a; [view data] | | 446 | H277L3
| A862T1
| Ataxia, sensory ataxic neuropathy, with cerebellar features, visual disturbances with diplopia, dysarthria and dysphasia. Multiple mtDNA seletions, COX-negative fibers and ragged red fibers were found in autopsy. Areflexic, absent reflexes, in all limbs, distal weakness and distal sensory loss of proprioception and vibration. She became encephalopathic and febrile. | | - | movement disorder (ataxia) | |
| | 46 | 54 | 66 | McKelvie et al, 2012; [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: 44.6
Std dev in onset in displayed cases: 12.7
|