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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R597W
cDNA Position: 1789 c→t (exon 10)
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Disease | Genetics | Frequency | Reference |
PEO with ataxia | Homozygous | (Stewart et al., 2009) PubMed |
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PEO, seizures, and VPA induced liver failure | Found as a homozygote in an 18 y.o. with PEO, neuropathy, seizures, and VPA induced hepatotoxicity | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Encephalopathy and ataxia | Found in trans w/ A467T in a 26 y.o. w/ encephalopathy, ataxia, neuropathy, and ptosis. | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
SANDO | Found in trans w/A467T in a 20 y.o. with ataxia, polyneuropathy, ophthalmoparesis, and dysarthria, | (Bereau et al., 2016) PubMed |