METHOD FOR DIAGNOSTICS OF CONGENITAL NEMALINE MYOPATHY

摘要

FIELD: medicine.;SUBSTANCE: invention is a method for nemaline myopathy diagnostics in which a sample of a biopsy specimen of skeletal striated muscle tissue is taken from a patient with clinical picture of congenital myopathy, immunohistochemical detection of a factor induced by 1-alpha hypoxia (HIF-1α) is performed, for which histological specimens are cut, a fluorescent signal amplifier is applied, then a blocker protein is applied to the sections to reduce background non-specific staining, then the slices are incubated with the rabbit polyclonal antibodies to HIF-1α. After washing, the respective secondary fluorescent antibodies are applied to the cuts, coated with a photoconductive reagent, and luminescent microscopy is performed, and nemaline myopathy is diagnosed under the muscle fiber envelope when round and/or oval red-coloured loci 3-5 mcm in diameter are detected.;EFFECT: increased reliability of nemaline myopathy diagnosis.;2 dwg, 2 ex