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Teaching

Neuropathology :: Muscle and Nerve Pathology :: Congenital






Case 1

Male 57 years

Carrier of RYR1 variant, ?MH




Nicotinamide Adenine Dinucleotide Hydrogenase (NADH) 321272


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Case 2

Male 1 year

General muscle weakness, facial muscle weakness, progressive myotonia, slow motor development




1 LH12-29696a.jpg 1 LH12-29696b.jpg 1 LH12-29696c.jpg




H&E 321275


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Gomori 321276


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Case 3

Male 55 years

Muscle weakness and atrophy, proband of Malignant hyperthermia.




H&E 385881


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Nicotinamide Adenine Dinucleotide Hydrogenase (NADH) 385882


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ATP4.63 385883


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Case 4

Male 4 months

Hypotonia, developmental delay.




3 R22220 17_001.jpg




H&E 415736


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Gomori 415737


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