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DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis
Journal of Medical Genetics, 07/24/09
Isohanni P et al. – All LBSL patients were compound heterozygotes, which suggests that DARS2 mutation homozygosity may be lethal or manifest as a different phenotype. The authors show here that despite identical mutations the clinical picture was quite variable in the patients. Axonal neuropathy was an important feature of LBSL. DARS2 mutations cause childhood–to–adolescence–onset leukoencephalopathy, but they do not seem to be associated with MS.
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Today in Demyelinating Disorders...keeping you current
Receive free subspecialty "5-minute updates" via email
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