Hayhurst, Hannah

Leigh syndrome caused by mutations in [electronic resource] - Annals of clinical and translational neurology 03 2019 - 515-524 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2328-9503

10.1002/acn3.725 doi


Adolescent
Biopsy
Child
Child, Preschool
Cohort Studies
Female
Fibroblasts--metabolism
Genomic Structural Variation--genetics
Humans
Hydroxymethyl and Formyl Transferases--genetics
Infant
Infant, Newborn
Leigh Disease--genetics
Male
Mitochondria--genetics
Mitochondrial Diseases--genetics
Mitochondrial Proteins
Mutation
Prognosis
Retrospective Studies