Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

ABSTRACT:

Background

Single large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs) are amongst the most frequently diagnosed mtDNA disorders in childhood, yet their natural history remains poorly understood. We report the natural history of a large multicentre cohort of such children.

Methods

We reviewed case notes from three different UK centres to determine the clinical course of 34 patients (16 female, 18 male) with childhood-onset mitochondrial disease caused by SLSMDs. Kaplan-Meier analysis was used to compare survival of patients presenting with haematological features (Pearson syndrome) and those with nonhaematological presentations.

Results

The most frequent initial presentation was with isolated ptosis (16/34, 47%). Eleven (32%) patients presented with transfusion-de

SUBMITTER: Broomfield A 

PROVIDER: S-EPMC4432108 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature