Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNA ^Gly (MT-TG) Variant.

ABSTRACT:

Background

Mitochondrial diseases are clinically heterogeneous, can occur at any age, and can manifest with a wide range of clinical symptoms. They can involve any organ or tissue, characteristically involve multiple systems, typically affecting organs that are highly dependent on aerobic metabolism, and making a definitive molecular diagnosis of a mitochondrial disorder is challenging.

Methods

Clinical data of the proband and his family members were gathered in a retrospective study. Whole-exome sequencing and full-length sequencing of the mitochondrial genome that were performed on peripheral blood, urine, and oral mucosa cells were applied for genetic analysis.

Results

In this study, we reported a childhood-onset mitochondrial phenotype in a 13-year-old patient. An

SUBMITTER: Yang H 

PROVIDER: S-EPMC9005803 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature