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2 patient data entries in database for mutations T251I and P116Q.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
530P116Q
T251I
P587L2
He presented migraine by age 7 and complained of fatigue during exercise by age 12. mild diffuse muscle hypotonia and flat feet. ptosis at 14. Brain MRI showed mild white matter hyperintensity.
-ptosis
-hypotonic
-headache/ migraine
childhood
714n/aScuderi et al, 2015;

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531P116Q
T251I
P587L2
delayed psychomotor development. At age 3, neurological examination showed muscular hypotonia, joint laxity, absent deep tendon reflexes, broadbased gait, scapular winging, accentuation of lumbar lordosis and flat feet. intellectual disability. progressive cognitive impairment. mild myopathy.
-myopathy
-hypotonic
childhood
38n/aScuderi et al, 2015;

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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: 2
Avg age of onset in displayed cases: 5.0
Std dev in onset in displayed cases: 2.0

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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