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Post a Comment Spinal muscular atrophy. Clinical and genetic examination and risk assessments in pregnancy planning (SMA) woman
- Authors: Mitkovsky V.G.1,2, Ponomareva N.Y.1, Makarova V.V.1, Milagina V.S.1, Yampol’skaya E.N.1, Kochetkov A.V.1,2
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Affiliations:
- Central Clinical Hospital of Rehabilitation Federal Medical Biological Agency of Russia, «Goluboye» clinic
- Academy of Postgraduate Education under the FSBU «Federal Scientific and Clinical Center for Specialized Medical Assistance and Medical Technologies of the Federal Medical Biological Agency»
- Issue: Vol 10, No 1 (2019)
- Pages: 94-100
- Section: Case reports
- URL: https://journals.rcsi.science/clinpractice/article/view/10765
- DOI: https://doi.org/10.17816/clinpract10194-100
- ID: 10765
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Abstract
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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##article.viewOnOriginalSite##About the authors
Valery G. Mitkovsky
Central Clinical Hospital of Rehabilitation Federal Medical Biological Agency of Russia, «Goluboye» clinic; Academy of Postgraduate Education under the FSBU «Federal Scientific and Clinical Center for Specialized Medical Assistance and Medical Technologies of the Federal Medical Biological Agency»
Email: info@ckbvl.ne
Chief Medical Officer, PhDs in Medicine
Russian Federation, 141551, Moscow Region, Solnechnogorsk district, village «Goluboye»; 28, Orekhovy boulevard, Moscow, 115682Natalia Yu. Ponomareva
Central Clinical Hospital of Rehabilitation Federal Medical Biological Agency of Russia, «Goluboye» clinic
Author for correspondence.
Email: ponomarevanyu@ckbvl.net
ORCID iD: 0000-0002-6499-0977
Manager Office of the personalized medicine, doctor geneticist of the highest qualification category, PhDs in Medicine
Russian Federation, 141551, Moscow Region, Solnechnogorsk district, village «Goluboye»Vera V. Makarova
Central Clinical Hospital of Rehabilitation Federal Medical Biological Agency of Russia, «Goluboye» clinic
Email: makarovavv@ckbvl.net
Manager of the III neurology unit, PhDs in Medicine, neurologist
Russian Federation, 141551, Moscow Region, Solnechnogorsk district, village «Goluboye»Viktoria S. Milagina
Central Clinical Hospital of Rehabilitation Federal Medical Biological Agency of Russia, «Goluboye» clinic
Email: milaginavs@ckbvl.net
Intern, neurologist of the III neurology unit
Russian Federation, 141551, Moscow Region, Solnechnogorsk district, village «Goluboye»Elena N. Yampol’skaya
Central Clinical Hospital of Rehabilitation Federal Medical Biological Agency of Russia, «Goluboye» clinic
Email: info@ckbvl.net
Deputy Chief physician for a medical part
Russian Federation, 141551, Moscow Region, Solnechnogorsk district, village «Goluboye»Andrey V. Kochetkov
Central Clinical Hospital of Rehabilitation Federal Medical Biological Agency of Russia, «Goluboye» clinic; Academy of Postgraduate Education under the FSBU «Federal Scientific and Clinical Center for Specialized Medical Assistance and Medical Technologies of the Federal Medical Biological Agency»
Email: kotchetkov@inbox.ru
Deputy Chief physician for science, doctor of medical sciences, professor
Russian Federation, 141551, Moscow Region, Solnechnogorsk district, village «Goluboye»; 28, Orekhovy boulevard, Moscow, 115682References
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