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14 patient data entries in database for mutation R627Q. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 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] | | 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] | | 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] | | 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] | | 145 | G848S1
| R627Q5
| vomiting, headache, sensory ataxia, areflexia, focal seizures, status epilepticus. MELAS. | | - | movement disorder (ataxia) | |
| | 21 | n/a | n/a | Deschauer et al, 2007; [view data] | | 146 | R852C1
G11D
| R627Q5
| Dementia/encephalopathy, infantile spasms, cerebral artery occlusion, headache/migraine, stroke, constipation. 74% mtDNA copy number in blood. | | | n/a | 25 | n/a | Tang et al, 2011; [view data] | | 147 | G848S1
| R627Q5
| At 35 years of age, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, phobia anxiety disorder, mild cerebellar atrophy (MRI) | | | 29 | 35 | n/a | Schulte et al, 2009; [view data] | | 240 | Q1236H
R627Q5
| A467T2
| developed progressive blepharoptosis at the age of 20 and ophthalmoplegia during subsequent years, at 35, the patient developed progressive unsteadiness of gait. She noted fatigue, myalgia and cramps, which were triggered by moderate exercise. At 44, restless legs syndrome, deficits in memory and concentration, and suffered from recurrent episodes of depression, at 46 showed bilateral blepharoptosis, limited eye movements in all directions except downwards, lateral rotatory nystagmus and slight upbeat nystagmus in upward gaze, but no saccades. She had facial muscle weakness, dysarthria and slight proximal muscle weakness. She had glove and stockinglike hypoesthesia, distally impaired vibration sense, absent ankle reflexes and weak other tendon reflexes, as well as mild dysmetria. Her gait was broad-based, with further impairment with eyes closed. Tandem gait was impaired. deltoid muscle showed myopathic features, structurally abnormal mitochondria with para-crystalline inclusions, | | | 20 | 46 | n/a | Luoma et al, 2005; [view data] | | 241 | | R627Q5
Q1236H
| Developed bilateral blepharoptosis in his youth. Neurological examination at the age of 72 showed severe blepharoptosis, lids almost covering his entire pupils. Eye movements were normal, his muscle strength and sensation were good and tendon reflexes were normal, but his gait was unsteady. Early onset ptosis, ataxia | | - | movement disorder (ataxia) | |
| | 22 | 73 | n/a | Luoma et al, 2005; [view data] | | 246 | | R627Q5
Q1236H
| displays mild bilateral blepharoptosis and slight unsteadiness during tandem gait. Early onset ptosis, ataxia | | - | movement disorder (ataxia) | |
| | n/a | 19 | n/a | Luoma et al, 2005; [view data] | | 507 | R627Q5
| A467T2
| Ataxia, ptosis, myalgia, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 46 | 50 | n/a | Hanisch et al, 2014; [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] | | 625 | G11D
R627Q5
| R852C1
| Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant | | - | movement disorder (ataxia) | |
| | 15 | 19 | n/a | Wong et al, 2008; [view data] | | 628 | G11D
R627Q5
| R852C1
| Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans | | - | movement disorder (ataxia) | |
| | 15 | 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: 14
Avg age of onset in displayed cases: 19.4
Std dev in onset in displayed cases: 10.8
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