A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review
Salvatore Iacono, Elda Del Giudice, Alberta Leon, Vincenzo La Bella, Rossella Spataro
Topics & Concepts
Compound heterozygosityLeukodystrophyMissense mutationKrabbe diseaseHeterozygote advantageAtaxiaMutationAge of onsetSpasticityAtrophyDiseaseBiologyPathologyMedicineGeneticsGenotypeGeneNeurosciencePhysical therapyLysosomal Storage Disorders ResearchRNA regulation and diseaseCellular transport and secretion