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