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Neuromuscul Disord. 2017 Feb;27(2):183-184. doi: 10.1016/j.nmd.2016.11.007. Epub 2016 Nov 18.

Granuloma formation in a patient with GNE myopathy: A case report.

Author information

1
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan. Electronic address: k-nkmr@med.kanazawa-u.ac.jp.
2
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.
3
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan; Department of Neurology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, Japan.
4
Department of Pathophysiology, Tokyo Medical University, 6-1-1 Shinjuku, Shinjuku-ku, Tokyo, Japan.
5
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.

Abstract

We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells. Granuloma formation has never been reported in patients with GNE myopathy. We presume that aggregation of abnormal proteins and autophagy dysregulation in the myocytes of GNE myopathy could induce granuloma formation.

KEYWORDS:

GNE myopathy; Granuloma; Inflammation

PMID:
27919547
DOI:
10.1016/j.nmd.2016.11.007
[Indexed for MEDLINE]

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