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21 patient data entries in database for clusters 2 and 2 in age group "juvenile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
460A467T2
A467T2
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
juvenile
16n/a53Tzoulis et al, 2013;

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690A467T2
A467T2
Epilepsy, ataxia
-epilepsy
-movement disorder (ataxia)
juvenile
16n/an/aAshley et al, 2008;

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615A467T2
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)
-peripheral neuropathy
-dysarthria
-nystagmus
juvenile
n/a47n/aVan Goethem et al, 2004;

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614A467T2
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)
-peripheral neuropathy
-nystagmus
juvenile
n/a49n/aVan Goethem et al, 2004;

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613A467T2
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.
-status epilepticus
-movement disorder (ataxia)
-myopathy
-paralysis
-GI dysmotility
-dysarthria
-areflexia
juvenile
18n/a39Van Goethem et al, 2004;

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592A467T2
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.
-status epilepticus
-myoclonic seizures
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-ophthalmoplegia
-headache/ migraine
-dysarthria
-nystagmus
-tremor
juvenile
1639n/aWinterthun et al, 2005;

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590A467T2
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.
-status epilepticus
-myoclonic seizures
-movement disorder (ataxia)
-demyelinating neuropathy
-ophthalmoplegia
-headache/ migraine
-nystagmus
juvenile
1749n/aWinterthun et al, 2005;

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588T251I
P587L2
T251I
P587L2
Alpers. nocturnal nausea followed by loss of consciousness without motor relinquishing. obsessive–compulsive disorder.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
juvenile
1626n/aStewart et al, 2011;

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547A467T2
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
16n/a53Tzoulis et al, 2014;

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545A467T2
A467T2
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
15n/a44Tzoulis et al, 2014;

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461A467T2
A467T2
Epilepsy, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
juvenile
1542n/aTzoulis et al, 2013;

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83A467T2
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.
-myoclonic seizures
-movement disorder (ataxia)
-optic atrophy
-muscle weakness
-diplopia
-developmental delay
-dysarthria
juvenile
1820n/aTang et al, 2011;

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382A467T2
A467T2
Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
-nystagmus
juvenile
1520n/aTzoulis et al, 2006;

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356A467T2
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.
-peripheral neuropathy
-ragged red fibers
-myopathy
-ptosis
-PEO
juvenile
1836n/aLax et al, 2012a;

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334A467T2
A467T2
Migraine, seizures, dysphasia, magnesium infusion stopped the seizures
-headache/ migraine
juvenile
17n/an/aVisser et al, 2011;

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333A467T2
A467T2
Seizures, magnesium infusion stopped the seizures
-no known symptoms
juvenile
19n/an/aVisser et al, 2011;

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314A467T2
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-ophthalmoplegia
-stroke
-headache/ migraine
-encephalopathy
-dysphagia
-dysarthria
juvenile
1839n/aBrinjikji et al, 2011;

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310R597W2
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
-peripheral neuropathy
-ragged red fibers
-cox-negative
-ophthalmoplegia
-pancreatitis
juvenile
141818.5Saneto et al, 2010;

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139R597W2
R597W2
Seizures and developing PEO, peripheral neuropathy, and death occurred after VPA treatment. 53% mtDNA copy number in muscle.
-peripheral neuropathy
-PEO
juvenile
n/a18n/aTang et al, 2011;

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135H569Q2
H569Q2
Onset 15 years presenting encephalopathy, no epilepsy or hepatopathy. 78% mtDNA copy number in muscle.
-epilepsy
-encephalopathy
juvenile
15n/an/aAshley et al, 2008;

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87A467T2
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
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-liver failure
-hypotonic
-encephalopathy
-tremor
-hearing loss
juvenile
152323.5Wong et al, 2008;

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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: 21
Avg age of onset in displayed cases: 19.4
Std dev in onset in displayed cases: 9.4

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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