J Clin Neurol.  2017 Jan;13(1):105-106. 10.3988/jcn.2017.13.1.105.

Electron Microscopy Pathology of ADSSL1 Myopathy

• Park HJ
• Lee JE
• Choi GS
• Koo H
• Han SJ
• Yoo JH
• Choi YC
• Park KD

• KMID: 2364907
• DOI: http://doi.org/10.3988/jcn.2017.13.1.105

Abstract

No abstract available.

MeSH Terms

Microscopy, Electron*
Muscular Diseases*
Pathology*

Figure

• 

  Fig. 1 Histopathological findings of vastus lateralis muscle biopsy. A and B: Hematoxylin and eosin staining revealed marked variations of the fiber size and shape with frequent internalization of sarcolemmal nuclei and splitting; vacuolization of the sarcoplasm, focal endomysial fibrosis, and fatty infiltration were also occasionally noted. C: Modified Gomori trichrome staining showed whorled myofibers and occasional rimmed vacuoles. D: Nicotinamide adenine dinucleotide-tetrazolium reductase staining revealed a disorganized myofibrillar arrangement. E and F: An electron microscopy examination showed varying degrees of disorganization of the myofibrils with loss of their normal striation pattern (E). Myofibers showing localized myofibrillar destruction contained remnants of the myofibrils, irregular electron-dense material of Z-line origin, and swollen mitochondria (F) (A, ×100; B, C, and D: ×200; E: ×10,000; F: ×15,000).

Reference

1. Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee J, et al. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. Ann Neurol. 2016; 79:231–243.

2. Lipps G, Krauss G. Adenylosuccinate synthase from Saccharomyces cerevisiae: homologous overexpression, purification and characterization of the recombinant protein. Biochem J. 1999; 341(Pt 3):537–543.