Articles with "mutations amino" as a keyword



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Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST

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Published in 2018 at "Journal of Child Neurology"

DOI: 10.1177/0883073818756680

Abstract: Hereditary spastic paraplegia is a phenotypically and genetically heterogeneous group of neurodegenerative disorders characterized by lower extremity weakness and spasticity. Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST, typically causes a… read more here.

Keywords: mutations amino; early onset; onset spasticity; amino acid ... See more keywords