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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: A143V
cDNA Position: 427 g→t (exon 2)
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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 |
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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 |
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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 |