Molecular genetics and metabolismAdultFemaleHumansMaleMiddle Aged
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.
Alessia Catania, Silvia Marchet, Krisztina Einvag, Eleonora Lamantea, Ettore Salsano, Daniele Ghezzi, Costanza Lamperti
Published: 202510.1016/j.ymgme.2025.109259
Abstract
BACKGROUND: Mitochondrial aminoacyl tRNA synthetase (mt-ARS) related disorders represent a widely heterogeneous group of diseases affecting the efficiency of mitochondrial protein synthesis. AARS2 and DARS2 biallelic mutations are associated with cli…
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