Schiff, Manuel

Leigh's disease due to a new mutation in the PDHX gene. [electronic resource] - Annals of neurology Apr 2006 - 709-14 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0364-5134

10.1002/ana.20818 doi


Adolescent
Blotting, Western--methods
DNA Mutational Analysis
Female
Genetic Linkage
Humans
Leigh Disease--genetics
Magnetic Resonance Imaging--methods
Mutation
Pyruvate Dehydrogenase Complex--genetics
RNA, Messenger--biosynthesis
Reverse Transcriptase Polymerase Chain Reaction--methods
Review Literature as Topic