Autosomal dominant limb-girdle muscular dystrophy: Leyden–Möbius pelvifemoral form
- Authors: Shnayder N.A.1, Nikolayeva T.Y.2, Boroeva E.N.3, Pshennikova G.M.2, Luginov N.V.4, Panina Y.S.1
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Affiliations:
- Krasnoyarsk State Medical University named after Prof. V.F. Voyno-Yasenetsky
- M.K. Ammosov North-Eastern Federal University, Ministry of Education of Russia
- National Medicine Center, Republican Hospital One
- Emergency Medical Care Center, Republican Hospital Two, Yakutsk
- Issue: Vol 3, No 1 (2013)
- Pages: 46-61
- Section: CLINICAL DISCUSSION
- Published: 19.05.2013
- URL: https://nmb.abvpress.ru/jour/article/view/40
- DOI: https://doi.org/10.17650/2222-8721-2013-0-1-46-61
- ID: 40
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Abstract
The paper considers current approaches to the clinical laboratory diagnosis of limb-girdle muscular dystrophy with emphasis on its autosomal dominant forms. The authors describe their clinical observation of a case of late diagnosis of the pelvifemoral form of autosomal dominant limbgirdle muscular dystrophy in a 37-year-old patient.
About the authors
N. A. Shnayder
Krasnoyarsk State Medical University named after Prof. V.F. Voyno-Yasenetsky
Author for correspondence.
Email: NASchnaider@yandex.ru
Russian Federation
T. Ya. Nikolayeva
M.K. Ammosov North-Eastern Federal University, Ministry of Education of Russia
Email: fake@neicon.ru
Russian Federation
E. N. Boroeva
National Medicine Center, Republican Hospital One
Email: fake@neicon.ru
Russian Federation
G. M. Pshennikova
M.K. Ammosov North-Eastern Federal University, Ministry of Education of Russia
Email: fake@neicon.ru
Russian Federation
N. V. Luginov
Emergency Medical Care Center, Republican Hospital Two, Yakutsk
Email: fake@neicon.ru
Russian Federation
Yu. S. Panina
Krasnoyarsk State Medical University named after Prof. V.F. Voyno-Yasenetsky
Email: fake@neicon.ru
Russian Federation
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