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