TY  - GEN
AU  - Schiff,Manuel
AU  - Miné,Manuele
AU  - Brivet,Michèle
AU  - Marsac,Cécile
AU  - Elmaleh-Bergés,Monique
AU  - Evrard,Philippe
AU  - Ogier de Baulny,Hélène
TI  - Leigh's disease due to a new mutation in the PDHX gene
SN  - 0364-5134
PY  - 2006///0602
KW  - Adolescent
KW  - Blotting, Western
KW  - methods
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Linkage
KW  - Humans
KW  - Leigh Disease
KW  - genetics
KW  - Magnetic Resonance Imaging
KW  - Mutation
KW  - Pyruvate Dehydrogenase Complex
KW  - RNA, Messenger
KW  - biosynthesis
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Review Literature as Topic
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ana.20818
ER  -