Home Query References Browse Contact

14 patient data entries in database for clusters 2 and 3 in age group "infantile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
52A467T2
G303R3
Encephalopathy with epilepsy, and liver disease.
-epilepsy
-liver dysfunction
-encephalopathy
infantile
0.9n/a1.1Tzoulis et al, 2010;

[view data]

53A467T2
G303R3
Encephalopathy with epilepsy, and liver disease.
-epilepsy
-liver dysfunction
-encephalopathy
infantile
1n/a1.4Tzoulis et al, 2010;

[view data]

54A467T2
G303R3
Encephalopathy with epilepsy, ataxia.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
infantile
2n/a8Tzoulis et al, 2010;

[view data]

65A467T2
S305R3
Liver failure. 51% mtDNA copy number in muscle, 9% mtDNA copy number in liver, 87% mtDNA copy number in blood.
-liver failure
infantile
n/a1n/aTang et al, 2011;

[view data]

91P1073L3
A467T2
Psychomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis, ptosis, hearing loss.
-lactic acidosis
-ptosis
-liver dysfunction
-psychomotor delay
-GI dysmotility
-hearing loss
infantile
0.01n/a0.8Kurt et al, 2010;

[view data]

92P1073L3
A467T2
Psychomotor delay, status epilepticus, liver disease, GI dysmotility, lactic acidosis, optic atrophy.
-lactic acidosis
-status epilepticus
-optic atrophy
-liver dysfunction
-psychomotor delay
-GI dysmotility
infantile
0.01n/a3Kurt et al, 2010;

[view data]

93S1095R3
A467T2
Hypotonia, hepatic failure, elevated transaminases, respiratory deficiency/failure, FTT, developmental delay, GI reflux, delayed gastric emptying, dicarboxylic aciduria, high CSF protein, abnormal muscle histology, COX deficiency, vomiting. 12% mtDNA copy number in muscle, 42% mtDNA copy number in blood, ETC low. ptosis, poor head control. Central hypotonia, and absent deep tendon reflexes. He developed hypoxia, ascites, tachycardia, intermittent fevers, and sepsis. Some severely cytochrome oxidase-deficient muscle fibers were present.
-abnormal muscle histology
-ptosis
-liver failure
-failure to thrive
-hypotonic
-developmental delay
-vomiting
-GI reflux
-delayed gastric emptying
-respiratory deficiency
infantile
0.333n/a0.583Tang et al, 2011;

[view data]

94R807C3
A467T2
Encephalopathy/dementia, liver failure, cholestasis, lactic acidosis, altered mental status. 47% mtDNA copy number in muscle, 8% mtDNA copy number in liver, ETC low.
-lactic acidosis
-liver failure
-encephalopathy
-dementia
-altered mental status
-cholestasis
infantile
n/a1n/aTang et al, 2011;

[view data]

95R807H3
A467T2
Developmental delay, hypotonia, seizures, hepatic failure, elevated transaminases, renal tubular disease, failure to thrive. 18% mtDNA copy number in blood.
-liver failure
-failure to thrive
-hypotonic
-developmental delay
infantile
n/a1n/aTang et al, 2011;

[view data]

544G303R3
A467T2
Psychomotor deterioration, hypotonia, spasticity, Stroke-like episodes, Refractory seizures, Epilepsia Partialis Continua, Status Epilepticus, Myoclonus, severe hepatic dysfunction,
-status epilepticus
-myoclonic seizures
-intractable seizure
-epilepsia partialis
-spasticity
-stroke
-hypotonic
-stroke-like episodes
infantile
0.916n/an/aSofou et al, 2012;

[view data]

557G303R3
A467T2
Epilepsy, stroke-like episode.
-epilepsy
-stroke
infantile
0.9n/a1.1Tzoulis et al, 2014;

[view data]

558G303R3
A467T2
Epilepsy, stroke-like episode, Ataxia.
-epilepsy
-movement disorder (ataxia)
-stroke
infantile
2n/a8Tzoulis et al, 2014;

[view data]

658A467T2
G303R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/a0.92Baruffini et al, 2011;

[view data]

659A467T2
G303R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/a0.42Baruffini et al, 2011;

[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: 0.9
Std dev in onset in displayed cases: 0.6

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
:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: