-
mutation found in
about 1–2% of all
mitochondrial genomes. Very low-level
heteroplasmic variance is
present in
essentially all individuals, even
those who are...
-
mitochondrial DNA
copies may be
normal or mutated; however, most
mutations are
heteroplasmic (only
occurring in some
copies of
mitochondrial DNA). It has been discovered...
- been ****ociated with
mitochondrial myopathy. A G5920A mutation, and a
heteroplasmic G6708A
nonsense mutation have been ****ociated with COX
deficiency and...
- Albrechtová J,
Kolbe T, Vogl C, et al. (June 2014). "MtDNA
segregation in
heteroplasmic tissues is
common in vivo and
modulated by
haplotype differences and...
-
sensitive tissues may also
contribute to the
features of
Leigh syndrome. A
heteroplasmic T→C MT-ATP6
mutation at
position 9185
results in the
substitution of...
-
present in low frequency, such as in the case of
somatic mosaicism or
heteroplasmic mitochondrial DNA, a
modified PCR
protocol that
enriches variant alleles...
- cell, and
among different tissues of the body. This
describes the term
heteroplasmic which is
characteristic of
mitochondrial diseases including KSS. The...
- myopathy,
lactic acidosis, and
complex I
deficiency ****ociated with a
heteroplasmic A → G
mutation at
position 3251 in the
mitochondrial tRNALeu(UUR) gne"...
- skin abnormalities,
severe hypotonia, and
normal reflexes. A
novel heteroplasmic mutation (7587T>C)
which altered the
initiation codon of the MT-CO2...
- Skonieczna, Katarzyna; Malyarchuk, Boris; Jawień, Arkadiusz; et al. (2015). "
Heteroplasmic substitutions in the
entire mitochondrial genomes of
human colon cells...
