Abstract
PURPOSE OF REVIEW: Primary mitochondrial disease (PMD) is diverse both genetically and phenotypically. Neurologic manifestations are present at a high rate and often pose complications for providers. The review will discuss common manifestations and how advances in genetic testing have broadened understanding of PMDs. RECENT FINDINGS: Across all areas of PMD research, genetic advancements are notable both for mitochondrial and nuclear DNA. SUMMARY: Global understanding of PMDs is driving deeper and broader research. Neurologic manifestations primarily include neuromuscular disease, epilepsy, stroke-like episodes and neurodegeneration, and advances in all areas have benefitted from global reporting of genetic studies.
Original language | English (US) |
---|---|
Pages (from-to) | 107-111 |
Number of pages | 5 |
Journal | Current opinion in pediatrics |
Volume | 37 |
Issue number | 1 |
DOIs | |
State | Published - Feb 1 2025 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health