Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

ABSTRACT:

Background

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a progressive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype.

Objective

To investigate the molecular basis of MNGIE in a patient with a normal plasma thymidine level.

Design

Clinical, neurophysiological, and histopathological examinations as well as molecular and genetic analyses.

Setting

Nerve and muscle center and genetic clinic. Patient A 42-year-old woman with clinical findings strongly suggestive for MNGIE.

Main outcome measures

Clinical description of the disease and its novel genetic cause.

Results

Identification of mitochondrial DNA depletion in muscle s

SUBMITTER: Shaibani A 

PROVIDER: S-EPMC2747647 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature