Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum
Published online on May 23, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
BackgroundFarber lipogranulomatosis with spinal muscular atrophy with progressive myoclonic epilepsy (FL-SMA-PME) is inherited in an autosomal recessive manner because of pathogenic variations in theASAH1gene. We report a series of 4 children from 3 ...
BackgroundFarber lipogranulomatosis with spinal muscular atrophy with progressive myoclonic epilepsy (FL-SMA-PME) is inherited in an autosomal recessive manner because of pathogenic variations in theASAH1gene. We report a series of 4 children from 3 ...