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7 patient data entries in database for clusters P587L and 3.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
42L304R3
P587L2
T251I
PEO, myopathy, ataxia.
-movement disorder (ataxia)
-myopathy
-PEO
adult
4574n/aHorvath et al, 2006;

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43L304R3
T251I
P587L2
PEO, Neuropathy. Affect sibling.
-PEO
adult
6068n/aHorvath et al, 2006;

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45R807P3
T251I
P587L2
PEO
-PEO
adult
4647n/aDi Fonzo et al, 2003;

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46R807P3
P587L2
T251I
PEO, dysphagia
-PEO
-dysphagia
adult
4552n/aDi Fonzo et al, 2003;

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47R807P3
T251I
P587L2
PEO, axonal sensorimotor polyneuropathy
-polyneuropathy
-axonal sensorimotor polyneuropathy
-PEO
adult
6071n/aDi Fonzo et al, 2003;

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601R807P3
T251I
P587L2
PEO, complicated by dysphagia, myopathy.
-myopathy
-PEO
-dysphagia
adult
n/a71n/aDel Bo et al, 2003;

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603R309L3
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/aLamantea et al, 2002;

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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: 7
Avg age of onset in displayed cases: 54.5
Std dev in onset in displayed cases: 9.9

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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