Novel autophagic vacuolar myopathies: Phenotype and genotype features.

Filomena NapolitanoChiara TerraccianoGiorgia BrunoPaolo De BlasiisLuca LombardiAlessandro GialluisiFernando GianfrancescoDonatella De GiovanniAlbina TummoloGiuseppe Di IorioGiuseppe LimongelliTeresa EspositoMariarosa Anna Beatrice MeloneSimone Sampaolo

Published in: Neuropathology and applied neurobiology (2021)

Our data suggest that reduced GAA activity may occur in any condition of impaired autophagy and that WES approach is advisable in all genetically undefined cases of autophagic myopathy. Therefore, deficiency of GAA activity and PAS-positive lymphocytes should be considered as AVM markers together with LC3/p62-positive autophagic vacuoles.

Keyphrases

cell death
electronic health record
signaling pathway
peripheral blood
late onset
mass spectrometry
machine learning
simultaneous determination
deep learning
high resolution
muscular dystrophy
high resolution mass spectrometry
tandem mass spectrometry
gas chromatography