Articles with "case spg56" as a keyword



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An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination

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Published in 2017 at "Journal of Human Genetics"

DOI: 10.1038/jhg.2017.77

Abstract: Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome… read more here.

Keywords: delayed myelination; myelination; case spg56; spastic paraplegia ... See more keywords