Article
Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.
Clinical genetics - 1 Oct 2016
Charzewska A, Wierzba J, Iżycka-Świeszewska E, Bekiesińska-Figatowska M, Jurek M, Gintowt A, Kłosowska A, Bal J, Hoffman-Zacharska D
Abstract excerpt
Hypomyelinating leukodystrophies (HLDs) are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. In the past various classification systems for HLDs have been used, based on imaging findings, clinical manifestation, and organelle-specific...
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