Article
[Familiar chronic progressive external ophthalmoplegia of mitochondrial origin].
Revista de neurologia - 1 Jan 2000
Pineda M, Playán-Ariso A, Alcaine-Villarroya M J, Vernet A M, Serra-Castanera A, Solano A, Vilaseca M A, Artuch R, López-Pérez M, Briones-Godino M P, Andreu A, Montoya J
Abstract excerpt
INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth,...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA, Mitochondrial
- Disease Progression
- Humans
- Infant
- Infant, Newborn
- Mitochondria, Muscle
- Muscle, Skeletal