A novel vacuolar myopathy with dilated cardiomyopathy |
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Authors: | Sugimoto Seiichiro |
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Affiliation: | Department of Neurology, National Hospital Organization, Miyazaki Higashi Hospital, Miyazaki, Japan. sugimoto-s@fc.med.miyazaki-u.ac.jp |
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Abstract: | 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). |
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