6-Year-Old Boy with Respiratory and Feeding Difficulties at Birth, Delayed Gross Motor Milestones, and Facial and Proximal Lower Limb Weakness

Apr 21, 2020 by in NEUROLOGY Comments Off on 6-Year-Old Boy with Respiratory and Feeding Difficulties at Birth, Delayed Gross Motor Milestones, and Facial and Proximal Lower Limb Weakness

Fig. 29.1 Representative images from a separate 10-year-old boy with RYR1 mutation. (a) H&E stain shows marked fiber size variation. (b) NADH-TR stain shows well demarcated central cores in type…

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40-Year-Old Woman with Patchy Painful Paresthesia

Apr 21, 2020 by in NEUROLOGY Comments Off on 40-Year-Old Woman with Patchy Painful Paresthesia

Fig. 40.1 PGP9.5 immunostaining of skin biopsy sections shows reduced intraepidermal nerve fiber densities at the left distal leg (a), distal thigh (b) and proximal thigh (c) with no distal-to-proximal…

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51-Year-Old Woman with Long-Standing Exercise Intolerance

Apr 21, 2020 by in NEUROLOGY Comments Off on 51-Year-Old Woman with Long-Standing Exercise Intolerance

Fig. 13.1 Glycogen storage myopathy. (a), H&E stain shows many fibers containing subsarcolemmal vacuoles or blebs (arrows). (b), EM shows striking subsarcolemmal glycogen accumulations (arrows) Additional Investigation After the Muscle…

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