LAMP-2 Positive Vacuolar Myopathy with Dilated Cardiomyopathy
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概要
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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).
著者
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Nonaka Ikuya
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
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Shiomi Kazutaka
Division of Neurology, Department of Internal Medicine, Miyazaki Medical College
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Ohi Takekazu
Department of Neurology, Kurashiki Central Hospital
関連論文
- LAMP-2 Positive Vacuolar Myopathy with Dilated Cardiomyopathy
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