Disease: Infantile myopathy and lactic acidosis
- A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
- Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients
- Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
- Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
- Epilepsy and Coenzyme Q10 deficiency with COQ4 variants
- Hereditary myopathies associated with hematological abnormalities
- Melas Syndrome
- Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings
- Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease
- Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
- MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants
- Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency
- Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
- Primary Mitochondrial Disorders Overview
- Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
- Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <em>AIFM1</em> variant
- Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
- The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency
- The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy
- TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation