Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.
Zsurka
G
G
Schröder
R
R
Kornblum
C
C
Rudolph
J
J
Wiesner
R J
RJ
Elger
C E
CE
Kunz
W S
WS
D000293:Adolescent; D020090:Chromosome Segregation; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu / Q000235:genetics*
D003062:Codon; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu; D012313:RNA