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4 patient data entries in database for clusters 1 and 4 in age group "infantile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
14D1184N1
R227W4
Severe childhood multi-system disorder- age of onset 4-7 months, age of death 26-43 months. Initial symptom was failure to thrive. Other symptoms included severe retardation, GI problems and hypotonia. Also hearing loss and elevated lactate in serum and CSF. Ragged red fibers were observed indicating mtDNA depletion
-ragged red fibers
-failure to thrive
-hypotonic
-retardation
-GI problems
-hearing loss
infantile
0.5n/a2de Vries et al, 2007;

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15G848S1
R227W4
Born with severe hypotonia, general muscle weakness, hearing loss, GI problems, mild cerbral atrophy, mtDNA depletion in muscle and GI, death via respiratory failure at 20 days.
-muscle weakness
-hypotonic
-GI problems
-respiratory deficiency
-hearing loss
infantile
0.01n/a0.1Giordano et al, 2009;

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21G848S1
R232H4
Hypotonia, microcephaly, abnormal MRI, hepatomegaly, FTT, hypoglycaemia, ptosis. Onset at 6 months with Leighs syndrome and death at 23 months. 3% mtDNA copy number in muscle and 12% mtDNA copy number in liver.
-ptosis
-failure to thrive
-hypotonic
-hepatomegaly
-microcephaly
infantile
0.5n/a2Taanman et al, 2009;

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336R227W4
G848S1
Complex I deficiency, Hypotonia, lethargy, respiratory distress, metabolic acidosis, FTT, encephalopathy
-failure to thrive
-hypotonic
-encephalopathy
infantile
0.010.06n/aCalvo et al, 2012;

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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: 4
Avg age of onset in displayed cases: 0.3
Std dev in onset in displayed cases: 0.2

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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