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Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J,
Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I,
Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS.
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a recently defined condition. In this interesting study, mutations were identified in a gene encoding mitochondrial aspartyl-tRNA synthetase, in affected individuals from all 30 families studied.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator