The m. 3243A> G mutation in the tRNA Leu (UUR) gene (MT-TL1) of the mitochondrial DNA
is the most widely seen pathogenic mtDNA mutation which has major phenotypic variations …

The nucleotide change A to G at position m. 3243 in the mitochondrial tRNA leucine (UUR)
gene (MT-TL1) is the most common point mutation reported in association with the …

The m. 3243A> G mutation in the tRNA Leu (UUR) gene (MT-TL1) is one of the most
common pathogenic point mutations in human mtDNA. Patient symptoms vary widely and …

Objective In general, a mitochondrial disorder is diagnosed on the basis of symptom
combinations and confirmed by genetic findings. However, patients carrying the m. 3243A> …

The m. 3243A> G point mutation in the mitochondrial tRNALeu (UUR)(MTTL1) gene is a
common cause of mitochondrial DNA disease and is associated with a variety of clinical …

Background Mitochondrial disease are multi-system disorders affecting virtually any organ
and cause significant morbidity. The prevalence of mitochondrial DNA (mtDNA) disease is …

The A3243G mutation in the mitochondrial tRNALeu (UUR) gene is one of the most common
causes of mitochondrial DNA related disorders. Originally it was described in MELAS …

The Mitochondrial tRNALeu (MT‐TL1) mutation, m. 3243A> G constitutes the commonest
identified mitochondrial genome mutation. Characteristically, giving rise to MELAS …

Discussion Mitochondrial DNA disease is a multi-system disorder that affects tissues with
high energy demands such as the heart, brain, muscle, and endocrine system. It is caused …

Abstract Mitochondrial (mt‐) tRNA (MTT) gene mutations are an important cause of human
morbidity and are associated with a wide range of pathology, from isolated organ‐specific …