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Neuromuscular pathology (view source)
Revision as of 20:26, 7 December 2015
, 20:26, 7 December 2015→Central core myopathy: added
Jensflorian (talk | contribs) (→Nemaline myopathy: +pic) |
Jensflorian (talk | contribs) (→Central core myopathy: added) |
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File:Biopsy nemaline myopathy gomori.jpg | Nemaline rods (Trichrom Gomöri). | File:Biopsy nemaline myopathy gomori.jpg | Nemaline rods (Trichrom Gomöri). | ||
File:Congenital nemaline myopathy.jpg | Congenital nemaline myopathy (Trichrom Gomöri). | File:Congenital nemaline myopathy.jpg | Congenital nemaline myopathy (Trichrom Gomöri). | ||
</gallery> | |||
==Central core myopathy== | |||
===General=== | |||
*Floppy infant, but stable clinial course. | |||
*Autosomal dominant inheritance. | |||
**Mutation in RYR1 | |||
**Predisposition for malignant hyperthermia. | |||
*Normal CK levels. | |||
*Non-pathologic EMG. | |||
*Cores visile in NADH staining. | |||
**Mostly centrally, but can be eccentric. | |||
<gallery> | |||
File:Central core disease NADH stain.jpg | Cores (NADH stain). | |||
File:Cell sample of muscle tissue with central core disease (stained for contrast).jpg | Cores (NADH TR stain). | |||
</gallery> | </gallery> | ||