. Author manuscript; available in PMC: 2007 Jan 22.

Published in final edited form as: Hum Mol Genet. 2006 Nov 6;15(23):3473–3483. doi: 10.1093/hmg/ddl424

Table 4.

Genotypes (if known) from patients reported to harbor the E1143G polymorphism

POLG mutations	Phenotype	Reference
A889T + E1143G/WT	PEO	(31)
E1143G^a	Mitochondrial disease	(36)
E1143G^a	mtDNA deletions	(37)
E1143G^a	Myasthenia gravis with mtDNA deletions	(38)
Q497H + W748S+ E1143G/Q497H+ W748S+E1143G	ANS	(11,12)
S433C/E1143G	PEO	(15,18)
A467T/E1143G	PEO	(15)
A467T T885S/Q879H+ E1143G	Alpers	(15)
R627Q+Q1236H/L965X+ E1143G	PEO	(15)
G517V/E1143G	adANS	(15)

These genotypes are in addition to those listed in Table 1.

These studies noted E1143G in their patient population; however, E1143G was not ascribed to any patient in particular, thus the full genotypes of these patients are not known.

ad, autosomal dominant.