[A8344G mitochondrial DNA mutation observed in two generations].

Abstract excerpt

This article presents the case of a 62-year-old mother and her 41-year-old daughter, who have had severe neurological symptoms for a few decades. After a long investigation period the definite diagnosis of MERRF syndrome was confirmed. After DNA isolation from our patient's blood sample we examined the mitochondrial DNA with direct sequencing. An adenine-guanine substitution was detected in the tRNA gene at...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to DNA, Mitochondrial
• Share to MERRF Syndrome
• Share to Mutation