Email this article Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types
- Authors: Sharkova I.V.1, Dadali E.L.1, Ryzhkova O.P.1, Evdokimenkov V.N.1
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Affiliations:
- Medical-genetic center of science of the Russian Academy of Medical Science, Moscow
- Issue: Vol 3, No 2 (2013)
- Pages: 39-44
- Section: ORIGINAL REPORTS
- Published: 20.06.2013
- URL: https://nmb.abvpress.ru/jour/article/view/48
- DOI: https://doi.org/10.17650/2222-8721-2013-0-2-39-44
- ID: 48
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Abstract
A comparative analysis of the frequency of occurrence of 36 clinical symptoms in the three groups of patients with LGMD 2A and LGMD 2I
types and LGMD those patients who have mutations in CAPN3 and FKRP was detected. The absence of a particular symptom, allowing for the
differentiation of these genetic variants on clinical level. An algorithm for molecular genetic investigation of patients according to age at onset and some clinical symptoms. The proposed algorithm can significantly reduce the economic and time costs during expensive standing DNA analysis.
About the authors
I. V. Sharkova
Medical-genetic center of science of the Russian Academy of Medical Science, Moscow
Author for correspondence.
Email: sharkova-inna@rambler.ru
Russian Federation
E. L. Dadali
Medical-genetic center of science of the Russian Academy of Medical Science, Moscow
Email: fake@neicon.ru
Russian Federation
O. P. Ryzhkova
Medical-genetic center of science of the Russian Academy of Medical Science, Moscow
Email: fake@neicon.ru
Russian Federation
V. N. Evdokimenkov
Medical-genetic center of science of the Russian Academy of Medical Science, Moscow
Email: fake@neicon.ru
Russian Federation
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