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3 patient data entries in database for mutations N468D and A1105T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
482N468D2
A1105T1
Ptosis, PEO, Cataracts, sensory axonal neuropathy, moderate motor neuropathy, rigidity, bradykinesia, resting tremor, Parkinsons, muscle weakness.
-demyelinating neuropathy
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
304951Luoma et al, 2004;

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483N468D2
A1105T1
Resting tremor, rigidity, bradykinesia, ptosis, PEO, Excercise intolerance, muscle pain, sensory axonal neuropathy, Parkinsons
-demyelinating neuropathy
-ptosis
-PEO
-parkinson's disease
-tremor
adult
2140n/aLuoma et al, 2004;

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484N468D2
A1105T1
Resting tremor, rigidity, bradykinesia, ptosis, PEO, general fatigue, muscle weakness, periodic depression, parkinsons, premature menopause.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
3250n/aLuoma et al, 2004;

[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: 3
Avg age of onset in displayed cases: 27.7
Std dev in onset in displayed cases: 4.8

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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