Tubular aggregate myopathy: a case report.

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...

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Main Authors: Kim, Na Rae, Suh, Yeon-Lim
Format: Online
Language:English
Published: Korean Academy of Medical Sciences 2003
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055001/
id pubmed-3055001
recordtype oai_dc
spelling pubmed-30550012011-03-15 Tubular aggregate myopathy: a case report. Kim, Na Rae Suh, Yeon-Lim Research Article 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. Korean Academy of Medical Sciences 2003-02 /pmc/articles/PMC3055001/ /pubmed/12589105 Text en
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Kim, Na Rae
Suh, Yeon-Lim
spellingShingle Kim, Na Rae
Suh, Yeon-Lim
Tubular aggregate myopathy: a case report.
author_facet Kim, Na Rae
Suh, Yeon-Lim
author_sort Kim, Na Rae
title Tubular aggregate myopathy: a case report.
title_short Tubular aggregate myopathy: a case report.
title_full Tubular aggregate myopathy: a case report.
title_fullStr Tubular aggregate myopathy: a case report.
title_full_unstemmed Tubular aggregate myopathy: a case report.
title_sort tubular aggregate myopathy: a case report.
description 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.
publisher Korean Academy of Medical Sciences
publishDate 2003
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055001/
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