title: Tubular aggregate myopathy: a case report.
abstract: We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori's trichrome and intensive blue with nicotinamide adenonine dinucleotide-tetrazolium reductase, respectively. Ultrastructurally, aggregates of 60 nm-sized hexagonal tubules were found in both type 1 and type 2 fibers. We briefly review the pathologic findings of the previously reported cases of tubular aggregate myopathy and discuss the possible pathogenesis of this disease. We briefly discuss the possible pathogenesis of sarcoplasmic reticulum and review the ultrastructural characteristics.
authors.affiliation: Department of Pathology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, 50 Ilwon-dong, Kangnam-gu, Seoul 135-710, Korea.
authors.forename: Na Rae
authors.initials: NR
authors.lastname: Kim
authors.forename: Yeon-Lim
authors.initials: YL
authors.lastname: Suh
mesh_terms: D000328:Adult; D001706:Biopsy; D005629:Frozen Sections; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007723:Korea; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000648:ultrastructure; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D010375:Pedigree