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. 2019 Jun 9;12:1756286419850433. doi: 10.1177/1756286419850433

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© The Author(s), 2019

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).

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Figure 2. — Muscle biopsy of patient 2 shows diffuse fibre atrophy and some central nuclei with haematoxylin–eosin stain (A). Acid ATPase (pH 4) shows 92% type 1 fibre predominance (B). Nicotinamide adenine dinucleotide tetrazolium reductase (NADH-TR) showed abnormal nuclei and mitochondrial accumulation (C), periodic acid–Schiff (PAS) stain shows deposit of glycogen localized in some fibres (D). Ultrastructural analysis shows atrophic fibres with myelinoid body in subsarcolemmal position (E), cytoplasmatic body with mitochondrial alterations and vacuoles in nuclei (F). Abnormal dense nuclei with central vacuoles can be seen in (F, G).