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Human DNA Polymerase Gamma Mutation Database

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All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: A143V
cDNA Position: 427 g→t (exon 2)
Disease Genetics Frequency Reference
Alpers Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA (Sarzi et al. 2007)
PubMed
PEO Found in trans w/ L304R in a 22 y.o. pt. with PEO and cerebral cavernous malformation. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ G848S in a 4 y.o. w/ hypotonia, encephalopathy, seizures, hepatic failure, and developmentally delayed Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ G848S in a 38 y.o. w/ ataxia, peripheral neuropathy, hearing loss, and seizures Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A467T in an 8 y.o. w/ seizures and an abnormal MRI Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ G848S in a 37 y.o. symptoms not noted Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found in trans w/ A467T in a 49 y.o. w/ PEO, encephalopathy, ataxia, seizures, neuropathy, hearing loss, and muscle weakness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found in compound w/W748S and E1143G in a 40 y.o. female patient w/ chronic intestinal pseudo-obstruction, PEO, and ataxia. In 5 out of 80 patients w/ chronic intestinal pseudo-obstruction (Amiot et al., 2009)
PubMed
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