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,...
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