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2 patient data entries in database for mutations G737R and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
121G737R5
A467T2
Onset 60 years with ataxia, neuropathy, myopathy, hearing loss, cerebellar atrophy, SANDO/SCAE, PEO.
-movement disorder (ataxia)
-cerebellar atrophy
-myopathy
-PEO
-hearing loss
adult
60n/an/aWong et al, 2008;

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280G737R5
A467T2
progressive sensory ataxic neuropathy, ophthalmoparesis, cerebellar ataxia, limb weakness, muscle cramps, sensory hearing loss, dysarthria, dysphagia, constipation, and memory loss, brain MRI was abnormal with evidence of generalized cortical and cerebellar atrophy, evidence of a length-dependent sensory > motor polyneuropathy of axonal type, Multiple mtDNA deletions detected by PCR in blood
-cerebellar ataxia
-movement disorder (ataxia)
-cerebellar atrophy
-sensory ataxia
-polyneuropathy
-PEO
-dysphagia
-dysarthria
-hearing loss
adult
5358n/aMilone et al, 2011;

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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: 56.5
Std dev in onset in displayed cases: 3.5

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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