J Clin Neurol.  2018 Oct;14(4):580-582. 10.3988/jcn.2018.14.4.580.

GNE Myopathy with Prominent Axial Muscle Involvement

• Park JM
• Shin JH
• Park JS

• KMID: 2424190
• DOI: http://doi.org/10.3988/jcn.2018.14.4.580

Abstract

No abstract available.

MeSH Terms

Muscular Diseases*

Figure

• 

  Fig. 1 MRI scans, histopathology findings, and GNE mutations of the patient. A: Lower extremity T1-weighted MRI showed asymmetric fatty infiltration of the posterior compartments of the thigh and calf muscles. B: The most-striking change was severe fatty infiltration and atrophy of the lumbar paraspinal muscles in T2-weighted MRI imaging (arrows). C: A few rimmed vacuoles and minor variations in fiber sizes without significant inflammatory infiltrates were evident in modified Gomori trichrome stain, ×200. D: Sequencing chromatograms of c.1714G>C (p.V572L) and c.1771G>A (p.A591T) in GNE (arrows indicate the mutation sites).

Reference

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