Skeletal myopathies

The C-terminal NCI domain, called type XV endostatin or restin, has antiangiogenic activity similar to endostatin, the NCI domain of type XVIII collagen (see below). ° ° The NCI domain has a trimerization domain, a hinge region that is more sensitive to proteolysis in type XVIII collagen, and the endostatin domain. Lack of type XV collagen in mice causes a skeletal myopathy and cardiovascular defects. ... 

Barth syndrome [12] An X-linked dilated cardiomyopathy with cyclic neutropenia, and skeletal myopathy and abnormal mitochondria. This condition has been ascribed to mutations of the tafazzin gene. This gene might also account for nonsyndromic forms of X-linked cardiomyopathy and isolated noncompaction of the left ventricle myocardium. 

Eklund, L., Piuhola, J., Komulainen, J., Sor-munen, R., Ongvarrasopone, C., Fassler, R., et al. (2001) Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice. Proc Natl Acad Sci USA 98,1194-1199. 

Li, Z., Colucci-Guyon, E., Pincon-Raymond, M., Mericskay, M., Pournin, S., Paulin, D., et al. (1996) Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol 175, 362-366. 

Inheritance Chromosome Gene Protein product Skeletal myopathy... 

In both groups of patients, the only source of vitcimin E for peiiphercd tissues will be recently ingested viteunin E in chylomicrons. They develop cerebellar ataxia, axoned degeneration of sensory neurons, skeletal myopathy, cind pigmented retinopathy similtn to those seen in experimental animcds. 

The signs of selenium deficiency include skeletal myopathy and cardiomyopathy, and selenium deficiency continues to be reported in cases in which this essential element has not been added to parenteral nutrition solutions during long-term administration (69). 

Dirks, A. J., and K. M. Jones. 2006. Statin-induced apoptosis and skeletal myopathy. Amencan Journal of Physiology and Cellular Physiology 291 C1208-1212. 

Chronic, heavy, daily alcohol consumption is associated with decreased muscle strength, even when adjusted for other factors such as age, nicotine use, and chronic illness. Heavy doses of alcohol also can cause irreversible damage to muscle, reflected by a marked increase in the activity of creatine kinase in plasma. Muscle biopsies from heavy drinkers also reveal decreased glycogen stores and reduced pyruvate kinase activity. Approximately 50% of chronic heavy drinkers have evidence of type 11 fiber atrophy. These changes correlate with reductions in muscle protein synthesis and serum camosinase activities. Most patients with chronic alcoholism show electromyographical changes, and many show evidence of a skeletal myopathy similar to alcoholic cardiomyopathy. 

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