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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: S433C
cDNA Position: 1298 c→g (exon 7)
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Disease | Genetics | Frequency | Reference |
PEO- ataxia, peripheral neuropathy | Found in trans with E1143G in a patient with PEO, ataxia, peripheral neuropathy, and episodes of encephalopathy. Mother had heterozygous E1143G variant, but was asymptomatic. | Hudson, 2006: Not detected in 200 controls | (Hudson et al., 2006a) PubMed |
PEO | Sporadic, Found in trans with E1143G | Not found in 250 control individuals |
(Horvath et al., 2006) PubMed |