Tubular Aggregate Myopathy: A Case Report.
10.3346/jkms.2003.18.1.135
- Author:
Yeon Lim SUH
1
;
Na Rae KIM
Author Information
1. Department of Pathology, Samsung Medical Center, Seoul, Korea. ylsuh@smc.samsung.co.kr
- Publication Type:Case Report ; Review
- Keywords:
Tubular Aggregates;
Muscular Diseases;
Sarcoplasmic Reticulum;
Genes;
Dominant
- MeSH:
Adult;
Biopsy;
Frozen Sections;
Genes, Dominant;
Genes, Recessive;
Human;
Korea;
Male;
Microscopy, Electron;
Microtubules/ultrastructure;
Mitochondria, Muscle/ultrastructure;
Muscle, Skeletal/pathology*;
Myopathies, Structural, Congenital/diagnosis;
Myopathies, Structural, Congenital/genetics;
Myopathies, Structural, Congenital/pathology*;
Pedigree
- From:Journal of Korean Medical Science
2003;18(1):135-140
- CountryRepublic of Korea
- Language:English
-
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.
