Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types

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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Bibliographic Details
Main Authors: I. V. Sharkova, E. L. Dadali, O. P. Ryzhkova, V. N. Evdokimenkov
Format: Article
Language:Russian
Published: ABV-press 2015-02-01
Series:Nervno-Myšečnye Bolezni
Subjects:
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
Online Access:https://nmb.abvpress.ru/jour/article/view/48
Description
Summary: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.
ISSN:2222-8721
2413-0443

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