Leigh's disease due to a new mutation in the PDHX gene. [electronic resource]
Producer: 20060602Description: 709-14 p. digitalISSN:- 0364-5134
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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