myopathy - DocNeuro https://docneuro.com/tag/myopathy/ Up-to-date concepts in neurology Sun, 26 Jan 2020 17:46:40 +0000 en-US hourly 1 https://wordpress.org/?v=6.4.3 Carnitine palmitoyltransferase (CPT) deficiency https://docneuro.com/cpt-deficiency/?utm_source=rss&utm_medium=rss&utm_campaign=cpt-deficiency Sun, 12 Oct 2014 21:20:33 +0000 https://docneuro.jz7sunfr-liquidwebsites.com/cpt-deficiency/ Carnitine palmitoyltransferase II (CPT) deficiency is the most common inherited lipid-metabolism disorder in skeletal muscle. The adult form causes exercise-induced myalgias, myoglobinuria (myoglobin excretion into the urine) with rhabdomyolysis and myopathy. Triggers include fever, illness, and a high-fat dietary load. In severe cases with complete loss of enzyme function, the disease is fatal in infancy. […]

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]]> Mitochondrial myopathy https://docneuro.com/mitochondrial-myopathy/?utm_source=rss&utm_medium=rss&utm_campaign=mitochondrial-myopathy Sun, 12 Oct 2014 12:43:58 +0000 https://docneuro.jz7sunfr-liquidwebsites.com/mitochondrial-myopathy/ Mitochondrial myopathy can be caused by metabolic abnormalities related to mutations in the mitochondrial genome or mutations in the somatic genome that produce abnormal mitochondrial proteins. Pathologic findings in mitochondrial myopathy The classic findings of a mitochondrial myopathy on muscle biopsy are shown in the images below. These include: Ragged red fibers. This appearance is […]

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