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Central core disease

Posted Aug 23 2008 3:10pm 4 Comments


Central core disease is a congenital myopathy defined by the presence on muscle biopsy microscopy of numerous muscle fibers that lack oxidative activity, thus making "cores" on NADH-stained slides within muscle fibers. Reported to be one of the most frequent forms of congenital myopathy, this disease usually becomes apparent in infancy or childhood. Facial, neck, and proximal limb weakness with generalized hypotonia are the characteristic clinical features; but phenotypic severity is widely variable. The disease is linked to a ryanodine receptor gene mutation (RYR1, chromosome 19q13). The ryanodine receptor is depicted in the illustration. Malignant hyperthermia is highly associated with central core disease, independent of the degree of muscle weakness.



(Main source: Mark Cohen's chapter in Prayson's Neuropathology, A volume in the Foundations in Diagnostic Pathology series, first edition)
Comments (4)
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hi iam 21 years old and i am planing to get pragnent ,

i have central core disases , and know i am 9 months trying to get pragnent

it is beacases i have centeal core ??? i can have weeknes in urterus or not ???

reagart

maryelene

 hi

i am from 21 years old and i have central core disases , i want to get pragnent

now i had been trying to get pragnent for 10 months .

i want to asking you if there`s a problems with my fertilyty or my urterus muscles?

 beacses i have been trying for 10months to get pragnent .

it is a problem for central core disases ?e mail me on sabiha175@hotmail.com

regarts maryelene

 

 

e mail me on sabiha175@hotmail.com

 

Even if there were a problem with your uterus muscles (and I do not know whether they are involved in central core disease), I do not think that that would cause infertility in itself.
I also have central core disease. I have had two healthy pregnancies. Central core disease affects the proximal muscles, but I do not think it would keep you from conceiving a child.
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