A novel vacuolar myopathy with dilated cardiomyopathy.
We report a 46-year-old male patient with late-onset vacuolar myopathy and dilated cardiomyopathy. Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease. The clinical features of the patient are distinct from X-linked myopathy with excessive autophagy, infantile autophagic vacuolar myopathy and autophagic vacuolar myopathy with late-onset and multiorgan involvement (Kaneda).
Sugimoto
Seiichiro
S
Department of Neurology, National Hospital Organization, Miyazaki Higashi Hospital, Miyazaki, Japan. sugimoto-s@fc.med.miyazaki-u.ac.jp
D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis; D052120:Glycogen Storage Disease Type IIb / Q000175:diagnosis; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000601:surgery; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins