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. 2023 Sep 27;4(3):173-175.
doi: 10.2478/rir-2023-0026. eCollection 2023 Sep.

A rare condition that mimic myopathy: Late-onset glutaric acidaemia type II

Jianwen Liu  1 , Chenmin Wu  1 , Fei Gao  1 , Qing Yan  1
Affiliations

A rare condition that mimic myopathy: Late-onset glutaric acidaemia type II

Jianwen Liu et al. Rheumatol Immunol Res. .
No abstract available

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Figures

Figure 1
Figure 1
Pathological findings from left quadriceps muscle biopsy in this patient. (A) Varying sizes lipid vacuoles within muscle fibres (HE staining, × 400). (B) Lipid particle deposition within muscle fibres (ORO staining, × 400). (C) Electron microscopy showing lipid droplet deposition within muscle fibres.
Figure 2
Figure 2
Sequencing of the electron transfer flavoprotein dehydrogenase gene of the patient (A), her father (B), and her mother (C), showed the same missense mutation of c.250G>A (p.Ala84Thr ) in chr4-159603421. The mutation was homozygous, while in her parents it was heterozygous.
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