A Novel Vacuolar Myopathy with Dilated Cardiomyopathy
Copyright policy )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).
Cardiomyopathy, Dilated, Male, Genetic Diseases, X-Linked, Middle Aged, Lysosomal Membrane Proteins, Glycogen Storage Disease Type IIb, Diagnosis, Differential, Muscular Diseases, Lysosomal-Associated Membrane Protein 2, Humans, Muscle, Skeletal, Myopathies, Structural, Congenital
Cardiomyopathy, Dilated, Male, Genetic Diseases, X-Linked, Middle Aged, Lysosomal Membrane Proteins, Glycogen Storage Disease Type IIb, Diagnosis, Differential, Muscular Diseases, Lysosomal-Associated Membrane Protein 2, Humans, Muscle, Skeletal, Myopathies, Structural, Congenital
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