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 RussiaRussian Federation
E. N. Boroeva
National Medicine Center, Republican Hospital OneRussian Federation
G. M. Pshennikova
M.K. Ammosov North-Eastern Federal University, Ministry of Education of RussiaRussian Federation
N. V. Luginov
Emergency Medical Care Center, Republican Hospital Two, YakutskRussian Federation
Yu. S. Panina
Krasnoyarsk State Medical University named after Prof. V.F. Voyno-YasenetskyRussian Federation
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