title: Case of X-linked myopathy with excessive autophagy.
abstract: We report a 12-year-old boy with a vacuolar myopathy with clinical and histologic features of X-linked myopathy with excessive autophagy. This is a rare and slowly progressive disease of skeletal muscle without cardiac, nervous system, or other organ involvement. The differential diagnosis of vacuolar myopathy includes acid maltase deficiency, Danon disease, and X-linked myopathy with excessive autophagy.
authors.affiliation: University Hospital, Queen's Medical Centre, Nottingham, NG7 2UH, UK. gabby.chow@qmc.nhs.uk
authors.forename: Gabriel
authors.initials: G
authors.lastname: Chow
authors.forename: Clare E
authors.initials: CE
authors.lastname: Beesley
authors.forename: Keith
authors.initials: K
authors.lastname: Robson
authors.forename: Bryan G
authors.initials: BG
authors.lastname: Winchester
authors.forename: Janice L
authors.initials: JL
authors.lastname: Holton
mesh_terms: D001343:Autophagy; D002648:Child; D040181:Genetic Diseases, X-Linked / Q000473:pathology*; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D008297:Male; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D014617:Vacuoles
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins