Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types
A comparative analysis of the frequency of occurrence of 36 clinical symptoms in the three groups of patients with LGMD 2A and LGMD 2Itypes and LGMD those patients who have mutations in CAPN3 and FKRP was detected. The absence of a particular symptom, allowing for thedifferentiation of these genetic...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2015-02-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/48 |
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| author | I. V. Sharkova E. L. Dadali O. P. Ryzhkova V. N. Evdokimenkov |
| author_facet | I. V. Sharkova E. L. Dadali O. P. Ryzhkova V. N. Evdokimenkov |
| author_sort | I. V. Sharkova |
| collection | DOAJ |
| description | A comparative analysis of the frequency of occurrence of 36 clinical symptoms in the three groups of patients with LGMD 2A and LGMD 2Itypes and LGMD those patients who have mutations in CAPN3 and FKRP was detected. The absence of a particular symptom, allowing for thedifferentiation 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. |
| format | Article |
| id | doaj-art-c2002ec47d3d4b5f86e6ba029f344cd9 |
| institution | DOAJ |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2015-02-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-c2002ec47d3d4b5f86e6ba029f344cd92025-08-20T03:00:46ZrusABV-pressНервно-мышечные болезни2222-87212413-04432015-02-0102394410.17650/2222-8721-2013-0-2-39-4442Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I typesI. V. Sharkova0E. L. Dadali1O. P. Ryzhkova2V. N. Evdokimenkov3Medical-genetic center of science of the Russian Academy of Medical Science, MoscowMedical-genetic center of science of the Russian Academy of Medical Science, MoscowMedical-genetic center of science of the Russian Academy of Medical Science, MoscowMedical-genetic center of science of the Russian Academy of Medical Science, MoscowA comparative analysis of the frequency of occurrence of 36 clinical symptoms in the three groups of patients with LGMD 2A and LGMD 2Itypes and LGMD those patients who have mutations in CAPN3 and FKRP was detected. The absence of a particular symptom, allowing for thedifferentiation 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.https://nmb.abvpress.ru/jour/article/view/48limb-girdle muscular dystrophy2a type2i typegenes capn3fkrpcalpain 3fukutin-related proteincontractures of large jointspsevdogipertrofii calf musclesmedical and genetic counseling |
| spellingShingle | I. V. Sharkova E. L. Dadali O. P. Ryzhkova V. N. Evdokimenkov Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types Нервно-мышечные болезни limb-girdle muscular dystrophy 2a type 2i type genes capn3 fkrp calpain 3 fukutin-related protein contractures of large joints psevdogipertrofii calf muscles medical and genetic counseling |
| title | Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types |
| title_full | Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types |
| title_fullStr | Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types |
| title_full_unstemmed | Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types |
| title_short | Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types |
| title_sort | comparative analysis of features phenotype limb girdle muscular dystrophy 2а and 2i types |
| topic | limb-girdle muscular dystrophy 2a type 2i type genes capn3 fkrp calpain 3 fukutin-related protein contractures of large joints psevdogipertrofii calf muscles medical and genetic counseling |
| url | https://nmb.abvpress.ru/jour/article/view/48 |
| work_keys_str_mv | AT ivsharkova comparativeanalysisoffeaturesphenotypelimbgirdlemusculardystrophy2aand2itypes AT eldadali comparativeanalysisoffeaturesphenotypelimbgirdlemusculardystrophy2aand2itypes AT opryzhkova comparativeanalysisoffeaturesphenotypelimbgirdlemusculardystrophy2aand2itypes AT vnevdokimenkov comparativeanalysisoffeaturesphenotypelimbgirdlemusculardystrophy2aand2itypes |