Molecular Studies -- Anemia, Neutropenia, and Lactic Acidosis


MOLECULAR STUDIES:

Molecular mitochondrial DNA (mtDNA) studies were performed at an outside laboratory. Polymerase chain reaction analysis using specific primers revealed a large, probably single mtDNA deletion spanning several genes encoding subunits of various respiratory chain enzymes (Image 09).


FINAL DIAGNOSIS


Case 

IndexCME Case StudiesFeedbackHome