Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.

ABSTRACT:

Objective

To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of mitochondrial diseases.

Methods

Clinical data from 27 patients with confirmed mtDNA pathogenic variants were obtained from a database of 89 patients with suspected mitochondrial disease, registered from 2014 to 2020. Clinical data, biochemical analysis, neuroimaging findings, muscle biopsy and molecular studies were analyzed.

Results

Patients were 18 females and 9 males, with ages at onset ranging from 1 week to 14 years (median = 4 years). The clinical phenotypes were: mitochondrial myopathy, encephalopathy, lactic acidos

SUBMITTER: Loos MA 

PROVIDER: S-EPMC7933530 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature