Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

ABSTRACT:

Objectives

Homoplasmic maternally inherited, m.14674T>C or m. 14674T>G mt-tRNA(Glu) mutations have recently been identified in reversible infantile cytochrome c oxidase deficiency (or 'benign COX deficiency'). This study sought other genetic defects that may give rise to similar presentations.

Patients

Eight patients from seven families with clinicopathological features of infantile reversible cytochrome c oxidase deficiency were investigated.

Methods

The study reviewed the diagnostic features and performed molecular genetic analyses of mitochondrial DNA and nuclear encoded candidate genes.

Results

Patients presented with subacute onset of profound hypotonia, feeding difficulties and lactic acidosis within the first months of life. Although recovery was remarka

SUBMITTER: Uusimaa J 

PROVIDER: S-EPMC4562368 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature