Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H
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DOI: 10.1080/01616412.2020.1831329
Abstract: ABSTRACT Hereditary spastic paraplegias (HSPs) are a diverse class of neurodegenerative disorders that mainly affect the corticospinal tract of the body and result in various clinical conditions such as lower limb spasticity and muscle weakness… read more here.
Keywords: family; pakistani family; deletion; cytochrome domain ... See more keywords