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15 patient data entries in database for clusters 3 and 5. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 67 | R627Q5
| R309H3
| Onset at 0.5 years with encephalopathy and hepatopathy. Diagnosed as alpers. Death at 1.3 years | | | 0.5 | n/a | 1.3 | Horvath et al, 2006; [view data] | | 159 | R807C3
| W748S5
E1143G
| epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle. | | | 1 | n/a | 3 | Isohanni et al, 2011; [view data] | | 177 | P1073L3
| W748S5
| Psychomotor delay, status epilepticus, liver disease, lactic acidosis, ADHD, mental retardation. | | | 0.01 | n/a | 13 | Kurt et al, 2010; [view data] | | 64 | R627Q5
| S305R3
| generalized seizures and myoclonic jerks at age 5, ataxia and sensory-axonal peripheral neuropathy onset in teen years. | | - | movement disorder (ataxia) | |
| | 5 | 25 | n/a | Baruffini et al, 2011; [view data] | | 143 | R1096H3
| R627Q5
| Onset at 7 years with encephalopathy, hepatopathy, and SLE seizures. Diagnosed as alpers. Death at 8 years. | | | 7 | n/a | 8 | Horvath et al, 2006; [view data] | | 691 | W748C5
| R309C3
| mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). She first presented at 10 y with sudden onset of headache, repeated focal seizures and visual loss, complicated with residual sensory neuropathy and motor neuropathy, ophthalmoparesis (ophthalmoplegia) and cortical blindness. Extensive cytotoxic edema and ischemia in bilateral parietal–occipital lobes. recurrent seizure attacks and hemiparesis. | | | 10 | 18 | n/a | Lam et al, 2015; [view data] | | 61 | G737R5
| L304R3
| Muscle weakness, ptosis, ophthalmoparesis/CPEO. 61% mtDNA copy number in blood. | | | n/a | 54 | n/a | Tang et al, 2011; [view data] | | 62 | W748S5
E1143G
| L304R3
| SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle. | | | 20 | n/a | 27 | Naimi et al, 2006; [view data] | | 144 | R1096H3
| R627Q5
| At 43 years of age, cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, mild cerebellar atrophy. | | - | movement disorder (ataxia) | |
| | 25 | 43 | n/a | Schulte et al, 2009; [view data] | | 149 | R1096C3
| P648R5
| Onset at 53 years with PEO, neuropathy. | | | 53 | n/a | n/a | Horvath et al, 2006; [view data] | | 150 | R807C3
| P648R5
| Onset at 39 years with SANDO. | | | 39 | n/a | n/a | Ferreira et al, 2011; [view data] | | 261 | R807C3
| P648R5
| Man presented at age 39 progressive bilateral ptosis, unsteadiness gait and muscle weakness with difficulty in dressing and lifting objects. Three years later he noticed dysphagia and diplopia and sought medical advice. Neurological examination revealed droopy eyes which worsened after repeated eye movements and external ophthalmoparesis with diplopia on horizontal gaze. The patient also presented fluctuant dysarthria and dysphagia which worsened at the end of the day. There was distal limb muscles weakness with reduced deep tendon reflexes. Perception of vibration and position was absent below the iliac crests. Touch, pain and temperature senses were preserved. Signs of cerebellar dysfunction were also evident. Romberg sign was positive. multiple mtDNA deletions in muscle Summary: Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO | | - | movement disorder (ataxia) | |
| | 39 | n/a | 44 | Gago et al, 2006; [view data] | | 358 | R1096C3
| W748S5
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, epilepsy, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy | | | 25 | 49 | n/a | Lax et al, 2012a; [view data] | | 578 | R1096H3
| R627Q5
| early-onset ataxia, PEO, dysarthria, ptosis, sensory neuropathy, hypoacusis, cerebellar athropy. | | - | movement disorder (ataxia) | |
| | 22 | n/a | n/a | Schicks et al, 2010; [view data] | | 696 | | P648R5
R807C3
| progressive bilateral ptosis, unsteadiness gait and muscles weakness at the age of 39 and developed dysphagia and diplopia 3 years later. bilateral blepharoptosis, external ophthalmoparesis with diplopia on horizontal gaze, dysarthria and dysphagia at 44. distal limb muscles weakness, with depressed deep tendon reflexes, and impaired proprioception and vibration sense. Positive Romberg sign. axonal sensory polyneuropath, SANDO. parkinsonism, with hand rest tremor, moderate limb bradykinesia, cogwheel rigidity and hypomimic face. Multiple mtDNA deletions were detected. | | | 39 | 52 | n/a | Miguel et al, 2014; [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: 15
Avg age of onset in displayed cases: 22.6
Std dev in onset in displayed cases: 18.1
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