J Korean Med Sci.  2003 Feb;18(1):135-140. 10.3346/jkms.2003.18.1.135.

Tubular Aggregate Myopathy: A Case Report

• Suh YL
• Kim NR

• KMID: 1099811
• DOI: http://doi.org/10.3346/jkms.2003.18.1.135

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.

Keyword

Tubular Aggregates; Muscular Diseases; Sarcoplasmic Reticulum; Genes; Dominant

MeSH Terms

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