Nemaline Myopathy Presenting as Adult-onset Distal Myopathy

Kee Hong Park; Sung-Yeon Sohn; Je-Young Shin; Jun-Soon Kim; Sung-Hye Park; Ji-Sun Kim; Jung-Joon Sung

doi:10.14253/kjcn.2016.18.1.31

Journal List > Korean J Clin Neurophysiol > v.18(1) > 1084178

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Park, Sohn, Shin, Kim, Park, Kim, and Sung: Nemaline Myopathy Presenting as Adult-onset Distal Myopathy

Brief Communication

J Korean Ophthalmol Soc 2016;18(1):31-33.

Published online: 18 January 2016

DOI: https://doi.org/10.14253/kjcn.2016.18.1.31

Nemaline Myopathy Presenting as Adult-onset Distal Myopathy

Kee Hong Park¹, Sung-Yeon Sohn², Je-Young Shin³, Jun-Soon Kim³, Sung-Hye Park⁴, Ji-Sun Kim⁵, Jung-Joon Sung³

¹Department of Neurology, Gyeongsang National University Hospital, Jinju, Korea

²Department of Neurology, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea

³Department of Neurology, Seoul National University School of Medicine, Seoul, Korea

⁴Department of Pathology, Seoul National University School of Medicine, Seoul, Korea

⁵Department of Neurology, Korea University School of Medicine, Seoul, Korea

Address for correspondence; Jung-Joon Sung Department of Neurology, Seoul National University School of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea Tel: +82-2-2072-2820 Fax: +82-2-3672-7553 E-mail: jjsaint@snu.ac.kr

Received 27 January 2016 Revised 18 May 2016 Accepted 1 June 2016

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords: Nemaline myopathy, Distal myopathies, Nebulin

REFERENCES

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6.Lehtokari VL., Pelin K., Herczegfalvi A., Karcagi V., Pouget J., Franques J, et al. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul Disord. 2011. 21:556–562.

7.Jungbluth H., Sewry CA., Counsell S., Allsop J., Chattopadhyay A., Mercuri E, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord. 2004. 14:779–784.

8.Olivé M., Goldfarb LG., Lee HS., Odgerel Z., Blokhin A., Gonzalez-Mera L, et al. Nemaline myopathy type 6: clinical and myopatho-logical features. Muscle Nerve. 2010. 42:901–907.

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Figure 1.

Magnetic resonance imaging of the legs of patient. Fatty degenerative change was predominant in lower leg muscles.

Figure 2.

Pathologic finding of the patient. Nemaline rods are shown on a modified Gomori-trichrome stain (×200) (A). Electron micrograph shows scattered nemaline rods (arrows) and myofibers with moderate size variation (×20000) (B).

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