Article
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Neuropathology and applied neurobiology - 1 Aug 2021
Napolitano Filomena, Terracciano Chiara, Bruno Giorgia, De Blasiis Paolo, Lombardi Luca, Gialluisi Alessandro, Gianfrancesco Fernando, De Giovanni Donatella, Tummolo Albina, Di Iorio Giuseppe, Limongelli Giuseppe, Esposito Teresa, Melone Mariarosa Anna Beatrice, Sampaolo Simone
Abstract excerpt
BACKGROUND: Autophagic vacuolar myopathies (AVMs) are an emerging group of heterogeneous myopathies sharing histopathological features on muscle pathology, in which autophagic vacuoles are the pathognomonic morphologic hallmarks. Glycogen storage disease type II (GSDII) caused by lysosomal acid α-glucosidase (GAA) deficiency is the best-characterised AVM. AIMS: This study aimed to investigate the mutational...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.