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Central core disease

Central core disease (CCD) is an autosomal dominant, non-progressive myopathy characterized by hypotonia and proximal muscle weakness in infancy. CCD is named after detection of characteristic central cores that lack both mitochondria and oxidative enzyme... [Pg.345]

Robinson R, Carpenter D, Shaw MA et al (2006) Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 27 977-989... [Pg.1099]

Cell Adhesion Molecules Cell-cycle Arrest Cell Cycle Checkpoints Cell Cycle Control Cell Division Cycle Cell Multiplication Cell Proliferation Cellular Immmunity Central Core Disease (CCD)... [Pg.1488]

Figure 3. Central core disease muscle fibers chondrial oxidative enzyme activity. Figure 3. Central core disease muscle fibers chondrial oxidative enzyme activity.
Another condition due to mutations in the RYRl gene is central core disease. This is a rare myopathy presenting in infancy with hypotonia and proximal muscle weakness. Electron microscopy reveals an absence of mitochondria in the center of many type I (see below) muscle fibers. Damage to mitochondria induced by high intracellular levels of Ca secondary to abnormal functioning of RYRl appears to be responsible for the morphologic findings. [Pg.565]

Figure 49-10. Simplified scheme of the causation of malignant hyperthermia (MIM 145600). At least 17 different point mutations have been detected in the RYRl gene, some of which are associated with central core disease (MIM 117000). It is estimated that at least 50% of families with members who have malignant hyperthermia are linked to the RYRl gene. Some individuals with mutations in the gene encoding DHPR have also been detected it is possible that mutations in other genes for proteins involved in certain aspects of muscle metabolism will also be found. Figure 49-10. Simplified scheme of the causation of malignant hyperthermia (MIM 145600). At least 17 different point mutations have been detected in the RYRl gene, some of which are associated with central core disease (MIM 117000). It is estimated that at least 50% of families with members who have malignant hyperthermia are linked to the RYRl gene. Some individuals with mutations in the gene encoding DHPR have also been detected it is possible that mutations in other genes for proteins involved in certain aspects of muscle metabolism will also be found.
Central core disease (MIM 117000) Ca"+release channel (RYR1) Skeletal muscle... [Pg.569]

Loke J, MacLennan DH Malignant hyperthermia and central core disease disorders of Ca release channels. Am J Med 1998 104 470. [Pg.579]

Human creatine kinase -MM MAK33 IgGl Cardiac disease, mitochondrial disorders, inflammatory myopathies, myasthenia, polymyositis, McArdle s disease, NMJ disorders, muscular dystrophy, ALS, hypo and hyperthyroid disorders, central core disease, acid maltase deficiency, myoglobinuria, rhabdomyolysis, motor neuron diseases, A. thaliana A. thaliana 2S2 seed storage protein SP + 0.02-0.4% TSP of fresh leaf extract (10-12% TSP of intercellular fluid) 52... [Pg.236]

To date, there are no convenient animal models of central core disease, although cores have been reported in horses (Paciello 2006). Chelu et al. (Chelu 2006) introduced a point mutation (Y522S) in RYR1 of mice that had previously been associated with central cores in a French kindred (Quane 1994). However, these mice did not exhibit central cores (Chelu 2006), but do develop muscle weakness with age (unpublished observation). For additional information on MH and CCD readers are referred to the recent excellent review/update by Robinson et al (Robinson 2006). [Pg.294]

Some patients exhibit cores that are smaller and shorter (longitudinally) than the cores observed in central core disease and that occur both in slow and fast type muscle fibers (Ferreiro 2002b Robinson 2006). These cores are referred to as multicores or minicores and patients with myopathic symptoms (e.g. proximal muscle weakness, delayed motor development, difficulty rising, etc.) along with these corelike structures are said to have multiminicore disease (MmD). Considerable overlap... [Pg.294]

Avila, G., and Dirksen, R. T. (2001a). Functional Effects of Central Core Disease Mutations in the Cytoplasmic Region of the Skeletal Muscle Ryanodine Receptor. J Gen Physiol 118(3) 277—90. Avila, G., O Brien, J. J., and Dirksen, R. T. (2001b). Excitation-Contraction Uncoupling by a Human Central Core Disease Mutation in the Ryanodine Receptor. Proc Natl AcadSci USA 98(7) 4215—20. Avila, G., O Connell, K. M., Dirksen, R. T. (2003). The Pore Region of the Skeletal Muscle Ryanodine Receptor is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease. J Gen Physiol 121(4) 277-86. [Pg.307]

Dirksen, R. T., and Avila, G. (2002b). Altered Ryanodine Receptor Function in Central Core Disease Leaky or Uncoupled Ca(2+) Release Channels Trends Cardiovasc Med 12(5) 189-97. [Pg.310]

Ducreux, S., Zorzato, F., Ferreiro, A., Jungbluth, H., Muntoni, F., Monnier, N., Muller, C. R., and Treves, S., (2006). Functional Properties of Ryanodine Receptors Carrying Three Amino Acid Substitutions Identified in Patients Affected by Multi-Minicore Disease and Central Core Disease, Expressed in Immortalized Lymphocytes. Biochem J 395(2) 259-66. [Pg.310]

Ferreiro, A., Monnier, N., Romero, N. B., Leroy, J. P., Bonnemann, C., Haenggeli, C. A., Straub, V., Voss, W. D., Nivoche, Y., Jungbluth, H., Lemainque, A., Voit, T., Lunardi, J., Fardeau, M., and Guicheney, P. (2002a). A Recessive Form of Central Core Disease, Transiently Presenting as Multi-Minicore Disease, is Associated with a Homozygous Mutation in the Ryanodine Receptor Type 1 Gene. Ann Neurol 51(6) 750-9. [Pg.310]

Lamont, P. J., Dubowitz, V., Landon, D. N., Davis, M., and Morgan-Hughes, J. A. (1998). Fifty Year Follow-Up of a Patient with Central Core Disease Shows Slow but Definite Progression. Neuromuscul Disord 8(6) 385-91. [Pg.313]

Lyfenko, A., Goonasekera, S. A., and Dirksen RT (2004). Dynamic Alterations in Myoplasmic Ca2+ in Malignant Hyperthermia and Central Core Disease. Biochem. Biophys. Res. Commun 322(4) 1256-66. [Pg.314]

Lyfenko, A. D., Ducreux, S., Wang, Y., Xu, L., Zorzato, F., Ferreiro, A., Meissner, G., Treves, S., and Dirksen, R. T. (2006). Two Central Core Disease (CCD) Deletions in the C-Terminal Region of RYR1 Alter Muscle Excitation-Contraction (EC) Coupling by Distinct Mechanisms. Hum Mutat. [Pg.314]

Lynch, P. J., Tong, J., Lehane, M., Mallet, A., Giblin, L., Heffron, J. J., Vaughan, P., Zafra, G., MacLennan, D. H., and McCarthy, T. V. (1999). A Mutation in the Transmembrane/Luminal Domain of the Ryanodine Receptor is Associated with Abnormal Ca2+ Release Channel Function and Severe Central core Disease. Proc Natl Acad Sci USA 96(7) 4164-9. [Pg.314]

McCarthy, T. V., Quane, K. A., and Lynch, P. J. (2000). Ryanodine Receptor Mutations in Malignant Hyperthermia and Central Core Disease. Hum Mutat 15(5) 410-7. [Pg.314]


See other pages where Central core disease is mentioned: [Pg.345]    [Pg.345]    [Pg.1097]    [Pg.1098]    [Pg.281]    [Pg.291]    [Pg.291]    [Pg.319]    [Pg.402]    [Pg.404]    [Pg.723]    [Pg.249]    [Pg.273]    [Pg.274]    [Pg.292]    [Pg.295]    [Pg.308]    [Pg.310]    [Pg.310]    [Pg.311]    [Pg.313]    [Pg.315]    [Pg.315]    [Pg.316]    [Pg.316]    [Pg.316]   
See also in sourсe #XX -- [ Pg.291 ]

See also in sourсe #XX -- [ Pg.565 , Pg.569 ]

See also in sourсe #XX -- [ Pg.249 ]

See also in sourсe #XX -- [ Pg.273 , Pg.276 , Pg.281 , Pg.295 , Pg.297 , Pg.306 , Pg.578 ]




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