Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

ABSTRACT:

Objective

To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase gamma (POLG2) and a mutation in the OPA1 gene.

Design

Clinical examination and morphological, biochemical, and molecular analyses.

Setting

Tertiary care university hospitals and molecular genetics and scientific computing laboratory.

Patient

A 42-year-old man experienced hearing loss, progressive external ophthalmoplegia (PEO), loss of central vision, macrocytic anemia, and hypogonadism. His family history was negative for neurological disease, and his serum lactate level was normal.

Results

A muscle biopsy specimen showed scattered intensely succinate dehydroge

SUBMITTER: Ferraris S 

PROVIDER: S-EPMC2364721 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature