The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

ABSTRACT:

Background

Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-deficient fibers in skeletal muscle secondary to a disorder of mtDNA maintenance. Patients typically present with isolated extraocular muscle involvement, with little apparent evidence of the clinical heterogeneity documented in other mtDNA maintenance disorders, in particular POLG-related disease.

Methods

We reviewed the clinical, histochemical, and molecular genetics analysis of 33 unreported patients from 26 families together with all previous cases described in the literature to define the clinical phenotype associated with PEO

SUBMITTER: Fratter C 

PROVIDER: S-EPMC2875130 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature