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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy
Seiichiro Sugimoto1, Kazutaka Shiomi, Ayaka Yamamoto
1Department of Neurology, National Hospital Organization, Miyazaki Higashi Hospital. sugimoto-s@fc.med.miyazaki-u.ac.jp
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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