A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement.
The authors report a 41-year-old man with a novel form of adult-onset autophagic vacuolar myopathy (AVM) with multiple organ involvement including eyes, heart, liver, lung, kidney, and skeletal muscle. The vacuolar membranes had sarcolemmal features similar to vacuoles in Danon disease, X-linked myopathy with excessive autophagy, and infantile AVM. Lysosome associated membrane protein-2, absent in Danon disease, was present. Defined by distinct clinical features, this disease constitutes the fourth entity in the group of autophagic vacuolar myopathy in which the vacuolar membranes have features of sarcolemma.
Kaneda
D
D
Department of Neurology, Osaka Red Cross Hospital, Japan.
Sugie
K
K
Yamamoto
A
A
Matsumoto
H
H
Kato
T
T
Nonaka
I
I
Nishino
I
I
D000328:Adult; D017668:Age of Onset; D001343:Autophagy; D001706:Biopsy; D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis*; D003117:Color Vision Defects / Q000150:complications / Q000175:diagnosis; D004562:Electrocardiography; D004576:Electromyography; D005710:Gallium Radioisotopes; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D009206:Myocardium / Q000473:pathology; D009928:Organ Specificity; D011877:Radionuclide Imaging; D012162:Retinal Degeneration / Q000150:complications / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D014617:Vacuoles / Q000473:pathology*
D005710:Gallium Radioisotopes