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

Highlights • A patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. • Muscle biopsy: myopathic changes with rimmed vacuoles and granuloma formation. • Granuloma formation has never been reported in patients with GNE myopathy.

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Veröffentlicht in:	Neuromuscular disorders : NMD 2017-02, Vol.27 (2), p.183-184
Hauptverfasser:	Nakamura, Keiko, MD, PhD, Hamaguchi, Tsuyoshi, MD, PhD, Sakai, Kenji, MD, PhD, Noto, Daisuke, MD, PhD, Ono, Kenjiro, MD, PhD, Hayashi, Yukiko, MD, PhD, Nishino, Ichizo, MD, PhD, Yamada, Masahito, MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Distal Myopathies - genetics Distal Myopathies - pathology Distal Myopathies - physiopathology Female GNE myopathy Granuloma Granuloma - pathology Humans Inflammation Multienzyme Complexes - metabolism Neurology
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Beschreibung
Zusammenfassung:	Highlights • A patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. • Muscle biopsy: myopathic changes with rimmed vacuoles and granuloma formation. • Granuloma formation has never been reported in patients with GNE myopathy.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2016.11.007