P 44 Brisk jerk reflexes in a CMT case – novel heterozygous variant c.785T>C; p.Leu262Pro in KIF5A explaining the mixed phenotype
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DOI: 10.1016/j.clinph.2017.06.123
Abstract: Introduction Charcot-Marie-Tooth (CMT) disease is a progressively disabling syndrome phenotypically comprising distal muscle weakness and atrophy, foot deformities, sensory loss, and reduced or absent tendon reflexes. In spastic paraplegia (SPG), a hereditary disorder affecting the… read more here.
Keywords: phenotype; variant 785t; heterozygous variant; leu262pro kif5a ... See more keywords