Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions.

doi:10.1016/s0887-8994(02)00426-5

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Article

Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions.

Pediatric neurology - 1 Sept 2002

Marín-García José, Goldenthal Michael J, Flores-Sarnat Laura, Sarnat Harvey B

Abstract excerpt

We describe a 17-year-old male with neurologic and cardiovascular disorders characterized by complete atrioventricular block and a mitochondrial cytopathy with clinical, structural, biochemical, and molecular features shared by chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. The patient's manifestations included progressive external ophthalmoplegia, bilateral ptosis, muscle weakness,...

Topics

Adolescent
Biopsy
Chromosome Deletion
Chromosome Mapping
Cytochrome-c Oxidase Deficiency
DNA, Mitochondrial
Diagnosis, Differential
Electron Transport Complex I
Electron Transport Complex III
Heart Block
Humans
Kearns-Sayre Syndrome
Male
Microscopy, Electron
Muscle, Skeletal
NADH, NADPH Oxidoreductases
Phenotype

Source

Open in PubMed

Identifiers

PMID: 12393131
DOI: 10.1016/s0887-8994(02)00426-5

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