|
69 patient data entries in database for clusters 2 and 2. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 113 | L605R2
| A467T2
| Alpers, seizures, myoclonus, liver failure, elevated serum lactate, COX deficient fibers present in muscle and liver, mtDNA depletion in liver. | | | 1 | n/a | n/a | Stewart et al, 2009; [view data] | | 541 | R574W2
| A467T2
| mtDNA Deletions. She was healthy until 7 months of age when she, in association with pyelonephritis, had onset of myoclonic seizures and weakness of the left arm and leg. leftsided myoclonic seizures progressing to status epilepticus in the form of migrating EPC and unconsciousness. pneumonia and colitis. | | | 0.583 | 1 | 1.166 | Kollberg et al, 2006; [view data] | | 289 | A467T2
| A467T2
| Developemental delay, status epilepticus onset, valproic acid therapy 2 weeks, epilepsia partialis continua, mtDNA depletion in liver | | | 2.67 | 6 | n/a | Wolf et al, 2009; [view data] | | 540 | R574W2
| A467T2
| The girl was healthy and developed normally until one year of age when, during a mild respiratory infection, she had repeated multifocal partial seizures with clonic jerking and unconsciousness. The episode was later followed by the development of muscular hypotonia and of myoclonus. Mild psychomotor regression, ataxia, and slightly elevated serum transaminases were noticed. At 3 years of age, a mild infection provoked a prolonged status epilepticus, which lasted 3 weeks and included stroke-like features and rightsided hemiparesis. This was followed by a progressive deterioration of cognitive and motor functions and the development of ptosis and external ophthalmoplegia. Alpers. Febrile infections provoked repetitive status epilepticus with seizures in the form of migrating epilepsia partialis continua. mtDNA Deletions. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 1 | 1.5 | 4.333 | Kollberg et al, 2006; [view data] | | 522 | A467T2
| A467T2
| Alpers, Encephalopathy, liver failure. | | | 1 | n/a | n/a | Stewart et al, 2009; [view data] | | 118 | H754Q2
| A467T2
| Developmental delay, intractable seizure/refractory, hepatic failure, cerebellar atrophy, liver failure. 87% mtDNA copy number in blood. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 114 | G588D2
| A467T2
| VPA induced liver failure. 50% mtDNA copy number in muscle. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 119 | R574W2
| A467T2
| Alpers. Alive at 10 years. Sister died at age 27. | | | 3 | 10 | n/a | Spinazzola et al, 2009; [view data] | | 697 | A467T2
| A467T2
| During his early childhood, he had frequent “acetonaemic vomiting” and stunted growth. At age 7 years, he developed EPC and sensory ataxia. epilepsia partialis continua, followed by progressive ataxia Reduced density of the white matter. behavioural problems. Elevated blood lactate. myoclonic seizures. sensory ataxia, absent deep tendon reflexes, cerebellar dysfunction, nystagmus, peripheral vision defect, and a pale optic disk. mild atrophy of the frontal,parietal and visual cortices, focal hyperlucencies of the frontal and occipital cortex, as well as of the thalamus bilaterally, and cerebellar atrophy. COX-negative fibres. partial and generalized seizures as well as myoclonic fits. | | - | movement disorder (ataxia) | |
| | 7 | 18 | 19 | Simonati et al, 2003a; [view data] | | 290 | A467T2
| A467T2
| status epilepticus onset, valproic acid therapy 12 weeks, liver failure, | | | 9.25 | 11 | n/a | Wolf et al, 2009; [view data] | | 673 | A467T2
| A467T2
| Sudden falls, frequent negative myoclonus, ataxic gait and loss of proprioception in the distal extremities with nerve conduction studies demonstrating a mild axonal sensory polyneuropathy. myoclonic status epilepticus, generalized tonic–clonic seizure. | | - | movement disorder (ataxia) | |
| | 12 | 18 | 27 | Janssen et al, 2016; [view data] | | 258 | A467T2
| A467T2
| Refractory seizures, psychomotor regression, liver disease, presented with epilepsia partialis continua, Transient lactic acidemia | | | 8.5 | n/a | 9 | Nguyen et al, 2005; [view data] | | 546 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 8 | n/a | 47 | Tzoulis et al, 2014; [view data] | | 663 | A467T2
| A467T2
| MEMSA. sensory neuropathy affecting legs. normal development until the age of 6 years when she presented with an encephalopathic illness consisting of impaired consciousness, vomiting and generalised tonic-clonic seizures. One week later she developed a left homonymous hemianopia. She remained stable until the age of 13 years when she developed stimulus sensitive myoclonus, tremor and a progressive cerebellar ataxia. Mildly elevated blood lactate and alanine levels and a sensory axonal peripheral neuropathy. occipital lobe infarcts. COX negative fibres. gaze-evoked nystagmus at 17. hand tremor, stimulus- sensitive myoclonus, head titubation, and gait ataxia. | | - | movement disorder (ataxia) | |
| | 6 | 16 | n/a | Rajakulendran et al, 2016; [view data] | | 138 | R597W2
| R597W2
| Onset 10 years of age presenting as PEO with ataxia, myopathy, exercise intolerance, peripheral neuropathy, dysarthria, GI problems multiple deletions in muscle mtDNA. 1%RRF, 18% COX deficient fibers. | | - | movement disorder (ataxia) | |
| | 10 | n/a | n/a | Stewart et al, 2009; [view data] | | 579 | A467T2
| A467T2
| early-onset ataxia, epilepsy, sensory neuropathy. | | - | movement disorder (ataxia) | |
| | 12.5 | n/a | n/a | Schicks et al, 2010; [view data] | | 425 | K768E2
| M464T2
| Slowly progressive isolated neuropathy. At 5 years of age, she presented generalized areflexia. At 20 years of presented with sensory ataxia followed by distal muscle weakness and hypoesthesia of the lower limbs. Axonal sensorimotor polyneuropathy, sensory ataxia, muscle biopsy revealed numerous RRF, COX-negative fibers (5%) and mtDNA multiple deletions. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 5 | 53 | n/a | Rouzier et al, 2013; [view data] | | 662 | A467T2
| A467T2
| Alpers. Speech and motor delay were noted at the age of two years. At three years she developed epilepsy and six months later experienced migrainous attacks associated with vomiting, vertigo and transient left-sided weakness. At the age of five years she developed status epilepticus. A month later she was noted to have nystagmus, hypotonia of the lower limbs and absent knee jerks. Liver dysfunction. | | | 3 | n/a | 5.5 | Rajakulendran et al, 2016; [view data] | | 423 | A467T2
| A467T2
| Presented with status epilepticus, cerebellar ataxia and myoclonus, epilepsia partialis continua, Transient liver dysfunction with sodium valproate treatment at age 15, refractory focal motor status at age 17, | | - | movement disorder (ataxia) | |
| | 5 | n/a | 17 | Boes et al, 2009; [view data] | | 589 | A467T2
| A467T2
| This man developed epilepsy at age 5. At age 16 he developed unsteadiness and was euphoric. He had a right-sided divergent squint and difficulties on upgaze when the right eye would drift outward. Eye movements were otherwise full. There were horizontal nystagmus, absent tendon reflexes, and loss of proprioception distally in the legs. His gait was ataxic. Positive Romberg sign. At age 20 mild dysarthria was noted. Subsequently, he developed finger dysmetria, dysdiadochokinesis and myoclonus involving his arms, diarrhea, weight loss and cachexia, and ophthalmoplegia. Between the ages of 35 and 54 years he had infrequent seizures, but at age 55 he developed treatment-resistant status epilepticus and died. Cognitive dysfunction, axonal neuropathy, status epilepticus. | | - | demyelinating neuropathy | |
| | 5 | n/a | 55 | Winterthun et al, 2005; [view data] | | 315 | A467T2
| A467T2
| Hospitalized at age 7 for headache, fever, lethargy, and seizures, Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, The patient began valproate therapy at age 11 and suffered hepatic encephalopathy which resolved after carnitine therapy. | | | 7 | 28 | n/a | Brinjikji et al, 2011; [view data] | | 591 | A467T2
| A467T2
| Headache, tremor. At age 20, he developed unsteadiness and dizziness. Examination showed upper limb tremor and myoclonus, and titubation. At age 31 limitation of horizontal eye movements was recorded; muscle biopsy was reported as showing no ragged red fibers. Subsequently, he developed limb and truncal ataxia, worsening ophthalmoplegia, pain in his extremities with glove and stocking sensory loss, particularly affecting proprioception, and sudden falls with altered consciousness that responded to anticonvulsant treatment. Sensory ataxia. axonal neuropathy, ophthalmoplegia, demyelination neuropathy, cognitive dysfunction, focal occipital epilepsy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 10 | 43 | n/a | Winterthun et al, 2005; [view data] | | 84 | A467T2
| A467T2
| PEO, ataxia, seizures, encephalopathy, ptosis, sensory neuropathy, mtDNA multiple deletions. 20% COX deficient fibers, 3% ragged red fibers. | | - | movement disorder (ataxia) | |
| | 12 | n/a | n/a | Stewart et al, 2009; [view data] | | 320 | A467T2
| A467T2
| Myoclonic Seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, Abnormal Liver Enzymes, Alpers | | | 5 | n/a | 10.83 | Hunter et al, 2011; [view data] | | 461 | A467T2
| A467T2
| Epilepsy, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 15 | 42 | n/a | Tzoulis et al, 2013; [view data] | | 382 | A467T2
| A467T2
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy | | - | movement disorder (ataxia) | |
| | 15 | 20 | n/a | Tzoulis et al, 2006; [view data] | | 334 | A467T2
| A467T2
| Migraine, seizures, dysphasia, magnesium infusion stopped the seizures | | | 17 | n/a | n/a | Visser et al, 2011; [view data] | | 460 | A467T2
| A467T2
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 16 | n/a | 53 | Tzoulis et al, 2013; [view data] | | 545 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 15 | n/a | 44 | Tzoulis et al, 2014; [view data] | | 547 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 16 | n/a | 53 | Tzoulis et al, 2014; [view data] | | 588 | T251I
P587L2
| T251I
P587L2
| Alpers. nocturnal nausea followed by loss of consciousness without motor relinquishing. obsessive–compulsive disorder. | | | 16 | 26 | n/a | Stewart et al, 2011; [view data] | | 590 | A467T2
| A467T2
| At age 17, she had an epileptic seizure preceded by tiredness and blurred vision. Visual blurring and poor memory persisted and 5 days later she developed status epilepticus with a focal start in the right arm. Examination showed horizontal nystagmus that did not settle, normal eye movements, and normal peripheral findings except that the deep tendon reflexes were recorded as weak. She returned 3 years later at age 20 with headache and unsteadiness. myoclonus and progressive ophthalmoplegia, ataxia, frequent myoclonic jerks. Cognitive dysfunction, axonal neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 17 | 49 | n/a | Winterthun et al, 2005; [view data] | | 592 | A467T2
| A467T2
| Headache, tremor, sensory ataxia, dysarthria, nystagmus, ophthalmoplegia, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. She had headaches with preceding visual symptoms diagnosed as migraine that started at age 16. Episodic, involuntary jerking movements involving head and hands developed soon after. At age 18 she had two tonic clonic seizures preceded by poor concentration, confusion, and increased involuntary movements. Examination recorded titubation and myoclonus of the arms diminished reflexes in the legs, and reduced proprioception at the hallux. She has recurrent seizures and frequent headaches. At age 26 cerebellar and sensory ataxia, dysarthria, limita- tion of horizontal and vertical eye movements, and absent reflexes were recorded. COX negative fibers. At age 37 she was admitted with status epilepticus preceded by headache and visual symptoms in the right visual field. She remains ataxic but ambulant with assistance. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 16 | 39 | n/a | Winterthun et al, 2005; [view data] | | 613 | A467T2
| A467T2
| at 18 year of age, he hadstatus epilepticus lasting 8 days, followed by a “Todd paralysis” of the left arm and face. Five years later, he had an acute psychiatric illness, hyperventilation, gastrointestinal symptoms, gait unsteadiness, and disturbed limb coordination. Between 32 and 35 years of age, he lost 13 kg of weight. On exami- nation, he had sensory gait ataxia, limb ataxia, areflexia, generalized dystrophy, and loss of vibration and static joint position sense at the distal lower limbs, severe dysarthria, and a left-sided Babinski sign. Romberg test was positive. intestinal pseudo-obstruction, anorexia, and further weight loss. A few weeks later, he developed stupor (Glasgow coma scale, 5/15), hyperventilation, myoclonic jerks, and seizures necessitating intensive care and artificial ventilation. gastroparesis. dilated cardiomyopathy. | | - | movement disorder (ataxia) | |
| | 18 | n/a | 39 | Van Goethem et al, 2004; [view data] | | 614 | A467T2
| A467T2
| Increasing gait unsteadiness, mild cognitive decline in the fifth decade. Cataracts. ataxic gait. Deep tendon reflexes were absent. Vibration and position sense were absent at the lower limbs early on, whereas light touch sensation was decreased at a later stage. Pes Cavus. gaze paresis, nystagmus. axonal generalized peripheral neuropathy. brainstem dysfunction. | | - | movement disorder (ataxia) | |
| | n/a | 49 | n/a | Van Goethem et al, 2004; [view data] | | 615 | A467T2
| A467T2
| Increasing gait unsteadiness. ataxic gait. Deep tendon reflexes were absent. Vibration and position sense were absent at the lower limbs early on, whereas light touch sensation was decreased at a later stage. Pes Cavus. Dysarthria. horizontal and vertical gaze-evoked nystagmus. axonal generalized peripheral neuropathy. brainstem dysfunction. | | - | movement disorder (ataxia) | |
| | n/a | 47 | n/a | Van Goethem et al, 2004; [view data] | | 690 | A467T2
| A467T2
| Epilepsy, ataxia | | - | movement disorder (ataxia) | |
| | 16 | n/a | n/a | Ashley et al, 2008; [view data] | | 356 | A467T2
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal neurogenic change, proximal myopathy. | | | 18 | 36 | n/a | Lax et al, 2012a; [view data] | | 83 | A467T2
| A467T2
| Age 19.6, developmental delay, after 18 years, rapid onset of muscle weakness, ataxia, myoclonic seizures, optic atrophy, diplopia, dysarthria. 102% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | 18 | 20 | n/a | Tang et al, 2011; [view data] | | 87 | A467T2
| A467T2
| Onset 23 years with ataxia, neuropathy, hearing loss, seizures, and VPA liver failure. From "Saneto et al, 2010": Sensory neuropathy, ataxia, seizure onset at 15 years, simple partial seizure and epilepsia partialis continua myoclonus, VPA treatment caused liver failure after 3 months, progressive encephalopathy, Sensorineural hearing loss, dysmetria, intention tremor, hypotonia | | - | movement disorder (ataxia) | |
| | 15 | 23 | 23.5 | Wong et al, 2008; [view data] | | 135 | H569Q2
| H569Q2
| Onset 15 years presenting encephalopathy, no epilepsy or hepatopathy. 78% mtDNA copy number in muscle. | | | 15 | n/a | n/a | Ashley et al, 2008; [view data] | | 139 | R597W2
| R597W2
| Seizures and developing PEO, peripheral neuropathy, and death occurred after VPA treatment. 53% mtDNA copy number in muscle. | | | n/a | 18 | n/a | Tang et al, 2011; [view data] | | 310 | R597W2
| R597W2
| Complex partial seizures at age 14, treated with VPA. In 2 months, he had bilateral foot drop, pes cavus, and mild ophthalmoplegia without obvious cognitive abnormality and peripheral neuropathy, pancreatitis that progressed to multiple organ failure including kidneys, liver, lung, and pancreas. VPA was stopped, ragged red fibers, and COX-negative fibers, Although VPA was stopped, his liver function impairment progressed. Despite aggressive supportive care, he unfortunately died of sepsis and adult respiratory distress syndrome 27 days after the biopsy | | | 14 | 18 | 18.5 | Saneto et al, 2010; [view data] | | 314 | A467T2
| A467T2
| Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, ataxia, myoclonus, progressive gait ataxia, ophthalmoplegia, dysarthria, dysphagia, valproate induced encephalopathy and depression | | - | movement disorder (ataxia) | |
| | 18 | 39 | n/a | Brinjikji et al, 2011; [view data] | | 333 | A467T2
| A467T2
| Seizures, magnesium infusion stopped the seizures | | | 19 | n/a | n/a | Visser et al, 2011; [view data] | | 361 | A467T2
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal and proximal neurogenic change, | | | 41 | 44 | n/a | Lax et al, 2012a; [view data] | | 36 | M603L2
| T251I
P587L2
| PEO with ptosis, mild atrial hypertrophy. Sister had PEO. | | | 61 | 65 | n/a | Gonzalez-Vioque et al, 2006; [view data] | | 37 | T251I
P587L2
| T251I
P587L2
| PEO with myopathy | | | 62 | 70 | n/a | Horvath et al, 2006; [view data] | | 38 | T251I
P587L2
| T251I
P587L2
| PEO with myopathy | | | n/a | 56 | n/a | Horvath et al, 2006; [view data] | | 671 | A467T2
| A467T2
| At 21 years, presented with a first generalized tonic–clonic seizure. She complained of migraine afterward and developed a convulsive status epilepticus. Visual hallucinations, jerking of the right arm with secondary generalization. She died 7 months after initial presentation. | | | 21 | 21 | 21.6 | Janssen et al, 2016; [view data] | | 665 | A467T2
| A467T2
| MELAS. Occipital headaches. left homonymous hemianopia suggestive of a stroke-like episode. right occipital infarct. Jerking movements of her left arm suggestive of epilepsia partialis continua with dystonia, which was refractory to treatment. She developed an asymptomatic axonal neuropathy, deafness and myopathic weakness. bilateral ptosis, ophthalmoparesis, a dense left homonymous hemianopia, dysarthric speech, increased tone with clawing of the left hand, and distal muscle weakness. In addition, Romberg’s test was positive and she walked with a wide-based gait. ataxic gait. axonal sensory motor neuropathy. ragged red fibres and COX-negative fibres. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 24 | 31 | n/a | Rajakulendran et al, 2016; [view data] | | 664 | A467T2
| A467T2
| SANDO. Severe axonal neuropathy. COX-negative fibres, ragged red fibres. presented at the age of 20 years with diplopia and bilateral ptosis. Over the next five years he developed dysphagia, slurred speech and an unsteady gait. tingling sensation in hands, feet, leg, trunk and arms. at 44 years demonstrated bilateral ptosis and limitation of eye movements in all directions of gaze. dysarthria. Romberg’s test was positive. ataxic gait. axonal sensory peripheral neuropathy. ragged red fibres and more than 10 COX-negative fibres. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 20 | 44 | n/a | Rajakulendran et al, 2016; [view data] | | 39 | T251I
P587L2
| T251I
P587L2
| Mild bilateral ptosis, PEO. | | | 41 | n/a | n/a | Stewart et al, 2009; [view data] | | 40 | A467T2
| T251I
P587L2
| PEO, ptosis, proximal weakness, multiple mtDNA deletions-LPCR. 25% COX-deficient fibers | | | 45 | n/a | n/a | Stewart et al, 2009; [view data] | | 618 | A467T2
| T251I
P587L2
| diabetes mellitus 2, congestive heart failure, hypothyroidism, hypertension, depression with psychotic features and gastric bypass surgery. gait difficulties, cognitive impairment, ophthalmoplegia, resting tremor and peripheral neuropathy. Shooting pains and numbness in her lower extremities, occasional rectal incontinence. Presyncopal dizziness. Complicated diabetic retinopathy. sensory ataxia secondary to a sensorimotor polyneuropathy, chronic supranuclear ophthalmoplegia, and a resting tremor of her right hand. bilateral ptosis and marked temporal muscle wasting. Her sensory examination found loss of pinprick sensation, temperature and vibration bilaterally up to her hips. She had bilateral vibration loss at her fingertips. She had loss of proprioception at her toes. She had bilateral dysdiadochokinesia with significant ataxia on finger to nose testing. Arreflexic in her lower extremities. On cognitive testing she was found to have moderate dementia with significant deficits in registration and construction as well as ideomotor apraxia. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 55 | 60 | n/a | Lovan et al, 2013; [view data] | | 41 | A467T2
| T251I
P587L2
| Exercise intolerance, CPEO, retinitis pigmentosa, diabetes, limb girdle weakness. 2nd patient with cataract and myopathy | | | n/a | 51 | n/a | Blok et al, 2009; [view data] | | 81 | A467T2
| A467T2
| Onset 32 years with neuropathy, myopathy, SANDO, PEO. | | | 32 | n/a | n/a | Wong et al, 2008; [view data] | | 82 | A467T2
| A467T2
| Stroke/ischaemic episodes, ataxia, seizures, myoclonic seizures, peripheral neuropathy, CPEO. 114% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 40 | n/a | Tang et al, 2011; [view data] | | 504 | A467T2
| A467T2
| Ataxia, ptosis, pareses, sensory neuropathy, motor neuropathy, axonal neuropathy | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 38 | 40 | n/a | Hanisch et al, 2014; [view data] | | 85 | A467T2
| A467T2
| PEO, ataxia, ataxic sensory axonal neuropathy, dysarthria, multiple mtDNA deletions. 10% COX deficient fibers, 2% RRF. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 30 | n/a | n/a | Stewart et al, 2009; [view data] | | 86 | A467T2
| A467T2
| Ataxia, peripheral neuropathy, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, delayed gastric emptying, diarrhoea, constipation, lactic acidosis, abnormal muscle ultratstructure, ragged red fibers. 75% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | delayed gastric emptying | |
| | n/a | 46 | n/a | Tang et al, 2011; [view data] | | 348 | A467T2
| A467T2
| ptosis, PEO, muscle weakness, fatigability, peripheral neuropathy, ataxia, lactic acidosis and diarrhea alternating with constipation, ragged-red fibers, | | - | movement disorder (ataxia) | |
| | n/a | 46 | n/a | Tang et al, 2012; [view data] | | 120 | R597W2
| A467T2
| Dementia/encephalopathy, ataxia, peripheral neuropathy, ptosis, abnormal muscle histology, abnormal muscle ultrastructure, abnormal respiratory enzyms, large mitochondrial/ proliferation, COX deficiency, ragged red fibers. 100% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 26 | n/a | Tang et al, 2011; [view data] | | 23 | T251I
P587L2
| T251I
P587L2
| PEO with myopathy, chronic bronchitis. | | | 63 | n/a | n/a | Horvath et al, 2006; [view data] | | 179 | G763R2
| G763R2
| PEO-SANDO, Onset at age 20 with proximal and distal limb muscle weakness, bilateral ptosis, dysphonia, and dysphagia. | | | 20 | n/a | n/a | Santoro et al, 2006; [view data] | | 277 | A467T2
| A467T2
| progressive bilateral ptosis, limited eye movements, lower extremities paresthesias, and unsteadiness, Multiple mtDNA deletions detected by PCR in muscle | | | 31 | 34 | n/a | Milone et al, 2011; [view data] | | 308 | A467T2
| A467T2
| progressive imbalance, hand and foot numbness, with impotence and dysarthria, progressive diplopia, bilateral ptosis with severe ophthalmoparesis in all directions and diplopia on lateral gaze. There was mild dysarthria and severe sensory ataxia, mild weakness in proximal and distal muscle groups, myopathy, multiple mtDNA deletions in muscle. | | - | movement disorder (ataxia) | |
| | 41 | 46 | n/a | McHugh et al, 2010; [view data] | | 309 | A467T2
| A467T2
| progressive difficulty walking, hand and foot numbness, ataxia, dysarthria, ptosis, sensory ataxia, with progressive ophthalmoplegia, dysarthria, nystagmus, dysphagia. Dysarthria became evident from age 55 years, and she developed ptosis at 62 years. | | - | movement disorder (ataxia) | |
| | 42 | 62 | n/a | McHugh et al, 2010; [view data] | | 510 | L463F2
| S511N2
| Presented with fatigue and was noted to have bilateral ptosis since the age of 46 years. He subsequently developed an unsteady gait, progressive deafness, and dysphagia. Extrapyramidal features were first noted 2 years later, at age 48 years, and they progressed until his symptoms improved after receiving ropinirole. He had a history of depression. On examination, he walked with a stooped posture and a shuffling gait with limited arm-swing, slow turning, and postural instability. He had symmetric bradykinesia but no tremor. He had an expressionless face and hypophonia with bilateral ptosis and ophthalmoplegia with relative sparing of downgaze. There were mild symmetric proximal muscle weakness, absent lower limb reflexes, and mild gait ataxia. Parkinsons. | | - | movement disorder (ataxia) | |
| | 46 | 52 | n/a | Hudson et al, 2007; [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: 69
Avg age of onset in displayed cases: 22.1
Std dev in onset in displayed cases: 17.5
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