Case of X-linked myopathy with excessive autophagy.
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.
Chow
Gabriel
G
University Hospital, Queen's Medical Centre, Nottingham, NG7 2UH, UK. gabby.chow@qmc.nhs.uk
Beesley
Clare E
CE
Robson
Keith
K
Winchester
Bryan G
BG
Holton
Janice L
JL
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
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins