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9 patient data entries in database for clusters A467T and 5.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
141A467T2
P625R5
Seizures onset at age 1, death via VPA induced liver failure at age 2.
-liver failure
infantile
1n/a2Baruffini et al, 2011;

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178A467T2
F749S5
Authors report N/A. 6% mtDNA copy number in blood.
-no known symptoms
infantile
n/a0.8n/aTang et al, 2011;

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126F749S5
A467T2
Intractable seizure, abrubt onset of seizure. 15% mtDNA copy number in blood.
-intractable seizure
childhood
n/a6n/aTang et al, 2011;

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115R627W5
A467T2
Onset at 32 years with encephalopathy, PEO, ataxia, dysphagia, myopathy, neuropathy and cardiomyopathy, hearing loss. Death at 41 years.
-movement disorder (ataxia)
-myopathy
-PEO
-encephalopathy
-dysphagia
-hearing loss
adult
32n/a41Horvath et al, 2006;

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116R627W5
A467T2
PEO, SANDO (Horvath 2006 or Van goethem 2003) sensory ataxic neuropathy, PEO, dysarthria.
-sensory ataxia
-PEO
-dysarthria
adult
20n/an/aHorvath et al, 2006;

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117R627W5
A467T2
Onset at 39 years with PEO, ataxia, myopathy, and hearing loss.
-movement disorder (ataxia)
-myopathy
-PEO
-hearing loss
adult
39n/an/aHorvath et al, 2006;

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240R627Q5
Q1236H
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,
-muscle weakness
-ptosis
-ophthalmoplegia
-dysarthria
-nystagmus
adult
2046n/aLuoma et al, 2005;

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507R627Q5
A467T2
Ataxia, ptosis, myalgia, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
-movement disorder (ataxia)
-demyelinating neuropathy
-ptosis
adult
4650n/aHanisch et al, 2014;

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262F749S5
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/aNguyen et al, 2006;

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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: 9
Avg age of onset in displayed cases: 20.6
Std dev in onset in displayed cases: 16.2

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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