POLG mutations in Alpers syndrome.
Nguyen KV, Østergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK
Neurology (2005), Volume 65, Page 1493
Abstract:
Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
Polymerases:
Human Pol gamma A467T,Human Pol gamma W748S,Human Pol gamma G848S,Human Pol gamma W1020X,Human Pol gamma E1143G
Topics:
Status:
| new | topics/pols set | partial results | complete | validated |
Results:
No results available for this paper.