MELAS associated with mutations in the POLG1 gene.
Deschauer
M
M
Department of Neurology, Martin-Luther-Universität Halle-Wittenberg, Halle/Saale, Germany.
Tennant
S
S
Rokicka
A
A
He
L
L
Kraya
T
T
Turnbull
D M
DM
Zierz
S
S
Taylor
R W
RW
D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D001706:Biopsy; D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005188:False Negative Reactions; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000737:chemistry; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion
D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human