Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis.

ABSTRACT:

Objectives

Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We sought to elucidate the spectrum of clinical, neuroradiological and molecular genetic findings of patients with bi-allelic pathogenic variants in MTFMT.

Methods

Retrospective cohort study combining new cases and previously published cases.

Results

Thirty-eight patients with pathogenic variants in MTFMT were identified, including eight new cases. The median age of presentation was 14 months (range: birth to 17 years, interquartile range [IQR] 4.5 

SUBMITTER: Hayhurst H 

PROVIDER: S-EPMC6414492 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature