Spinal muscular atrophy. Clinical and genetic examination and risk assessments in pregnancy planning (SMA) woman | Zendy

Valery G. Mitkovsky | Zendy; Natalia Ponomareva | Zendy; В. Макарова | Zendy; В. С. Милагина | Zendy; Ele. Yampol’skaya | Zendy; А. В. Кочетков | Zendy

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Spinal muscular atrophy. Clinical and genetic examination and risk assessments in pregnancy planning (SMA) woman

Author(s) -

Valery G. Mitkovsky,

Natalia Ponomareva,

В. Макарова,

В. С. Милагина,

Ele. Yampol’skaya,

А. В. Кочетков

Publication year - 2019

Publication title -

journal of clinical practice

Language(s) - English

Resource type - Journals

eISSN - 2618-8627

pISSN - 2220-3095

DOI - 10.17816/clinpract10194-100

Subject(s) - spinal muscular atrophy , sma* , etiology , medicine , smn1 , genetic counseling , inheritance (genetic algorithm) , prenatal diagnosis , pregnancy , atrophy , pathogenesis , genetic testing , physical examination , bioinformatics , pediatrics , pathology , surgery , fetus , disease , genetics , biology , gene , mathematics , combinatorics

The resulted clinical example of genetic diagnostics of the causes of spinal muscular atrophy in a patient planning fertility. The revealed mutation made it possible to clarify the etiology and pathogenesis of the development of neuromuscular disorders, determine the prognosis of inheritance and prenatal diagnosis, and evaluate the possibilities of adequate treatment.

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