… 3243A>G mutation 12 . Thus, a substantial number of patients with … 3243A>G mutation in
MT-TL1 can also give rise to other … 8344A>G) 79 account for the genetic aetiology of the vast …

… 3243A > G mitochondrial disorders treated with KH176 for 28 days, reported no serious
treatment-emergent adverse events. Although it did not meet its stated primary outcomes, KH176 …

… 3243A→G variant who had experienced recurrent stroke-like episodes since his mid-30s. …
Asymmetrical reduction in dopamine uptake (G) is seen on a dopamine transporter PET scan …

… 3243A>G mutation remains the most prevalent pathogenic … 8344A>G mutation remains a
rare form of mitochondrial … 4300A>G, in whom the index cases were deceased at the time of …

Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …

Importance Mitochondrial disorders have emerged as a common cause of inherited disease,
but their diagnosis remains challenging. Multiple respiratory chain complex defects are …

… Samples were allowed to thaw, and approximately 0.2 g of liver was weighed and …
After the primary homogenization step, the whole homogenate was centrifuged at 2500 × g …

… G mutation load; we present formulas to adjust for this. Blood is the most highly correlated
mutation measure for disease burden and progression in m.3243A>G-… 3243A>G heteroplasmy …

… 8344A>G mutation we observed several mitochondria devoid of normal cristae and crista
junctions (CJs), but with abnormal “onion-like” concentric membranes free of fenestration (Fig. …

… sequencing achieved using a Roche 454 GS Titanium FLX platform as previously described
(… 3C>T (g.19571C>T, predicted to remove a splice site before exon 2), and c.1067C>T; p.…