METHOD FOR DIAGNOSTICS OF CONGENITAL NEMALINE MYOPATHY Russian patent published in 2017 - IPC G01N33/50 G01N33/68 

Abstract RU 2630982 C1

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

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RU 2 630 982 C1

Authors

Sukhorukov Vladimir Sergeevich

Baranich Tatyana Ivanovna

Klejmenova Nina Vasilevna

Vinogradova Tatyana Vladimirovna

Brydun Anatolij Vasilevich

Shatalov Petr Alekseevich

Glinkina Valeriya Vladimirovna

Evsikova Nadezhda Nikolaevna

Pantelyushina Tatyana Viktorovna

Klimova Elena Aleksandrovna

Dates

2017-09-15Published

2016-07-13Filed