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2 patient data entries in database for mutations E1143G,A889T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
238A889T1
E1143G
Presented with ataxia and transient diplopia at age 25 and showed ptosis, external ophthalmoplegia, nystagmus, had a mild tremor of outstretched hands, marked dysmetria, Romberg sign, severe ataxia, was unable to stand on one foot, multiple mtDNA deletions in muscle.
-movement disorder (ataxia)
-ptosis
-ophthalmoplegia
-diplopia
-external ophthalmoplegia
-nystagmus
-tremor
adult
n/a25n/aHisama et al, 2005;

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251A889T1
E1143G
presented at age 7 years with gait difficulty and pes cavus. He developed upper extremity tremor, scanning speech, and horizontal nystagmus by age 15. at age 20 showed ptosis, external ophthalmoplegia, mildly decreased vibration and pin prick sensation, intention tremor, absent ankle and brachioradialis reflexes, and ataxic gait. Over the next 5 years, he experienced progression of the ptosis and ophthalmoplegia. The tremor became disabling at rest and with action, and he became wheelchair-dependent.
-movement disorder (ataxia)
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-nystagmus
-tremor
childhood
720n/aHisama et al, 2005;

[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: 2
Avg age of onset in displayed cases: 16.0
Std dev in onset in displayed cases: 9.0

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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