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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Korean Academy of Medical Sciences
2003
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055001/ |
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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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1611445052483043328 |