Muscle Biopsy Evaluation

Apr 21, 2020 by in NEUROLOGY Comments Off on Muscle Biopsy Evaluation

Fig. 1.1 Orientation of the muscle biopsy. (a) Larger specimens can sometimes be oriented with the naked eye, but in many cases, the use of a dissecting microscope can ensure…

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Nerve Biopsy Evaluation

Apr 21, 2020 by in NEUROLOGY Comments Off on Nerve Biopsy Evaluation

Fig. 2.1 Properly clamped peripheral nerve is fixed in glutaldehyde for resin embedding and EM processing Once in pathology laboratory, the fresh specimen is snap frozen in isopentane cooled in…

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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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