Mitochondrial disorders are clinically and genetically heterogeneous and are associated
with a variety of disease mechanisms. Defects of mitochondrial protein synthesis account for …

Mitochondrial disorders are now well recognized as an important cause of genetic disease.
They exhibit remarkable phenotypic, biochemical, and molecular heterogeneity, and …

Objective To describe the clinical and functional consequences of 1 novel and 1 previously
reported truncating MT-ATP6 mutation. Methods Three unrelated probands with …

A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift
towards early clinical whole exome sequencing (WES). Adult primary mitochondrial …

Results The demographic, clinical and molecular characteristics of the study population are
summarised in online supplementary table 2. Fifty-two adults (mean age 48.2±14 years …

Objective: Pathologic ribonuclease H1 (RNase H1) causes aberrant mitochondrial DNA
(mtDNA) segregation and is associated with multiple mtDNA deletions. We aimed to …

TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis
is challenging given the phenotypic overlap that exists with other metabolic and neurological …

Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease.
We report a 17 year old female who presented with subacute encephalopathy, brainstem …

Results One hundred and fourteen patients with clinicopathologically and/or genetically
confirmed mitochondrial disease were evaluated during the study period. Of these …

Most pathogenic mitochondrial DNA (mtDNA) variants occur in the 22 mtDNA-encoded
tRNA (mt-tRNA) genes. However, despite more than 270 reported mt-tRNA gene mutations …