Spinal muscular atrophy. Clinical and genetic examination and risk assessments in pregnancy planning (SMA) woman
Автор: Mitkovsky Valery G., Ponomareva Natalia Yu., Makarova Vera V., Milagina Viktoria S., Yampolskaya Elena N., Kochetkov Andrey V.
Журнал: Клиническая практика @clinpractice
Рубрика: Описание клинических случаев
Статья в выпуске: 1 т.10, 2019 года.
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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.
Spinal muscular atrophy, molecular diagnostics, inheritance of a mutation, treatment appropriate to pathogenesis, habilitation
Короткий адрес: https://sciup.org/143168158
IDR: 143168158 | DOI: 10.17816/clinpract10194-100
