Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
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DOI: 10.1186/s12883-018-1180-7
Abstract: BackgroundLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column.… read more here.
Keywords: brainstem spinal; involvement lactate; lactate elevation; cord involvement ... See more keywords