P199: Expanding the phenotype of the m.622G>A variant of MT-TF: A case series
Abstract
Variants in mitochondrial DNA are responsible for a wide spectrum of clinical presentations often involving multiple organ systems. The MT-TF gene encodes the mitochondrial transfer RNA for phenylalanine, and variants in this gene have been associated with various mitochondrial myopathies, including the well-known mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and myoclonic epilepsy with ragged red fibers (MERRF). The m.622G>A variant has previously been described in a single individual who presented with late-onset mild neuromuscular symptoms and sensorineural hearing loss.
Fields of Study & Subjects
Mitochondrial Function and Pathology
Metabolism and Genetic Disorders
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103693–103693
- Publication date
- 1 January 2026
- Language
- EN