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

Abstract

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.

Keywords

• поясно-конечностная мышечная дистрофия
• 2а тип
• 2i тип
• гены capn3
• fkrp
• кальпаин 3
• фукутинсвязанный белок
• контрактуры крупных суставов
• псевдогипертрофии икроножных мышц
• медико-генетическое консультирование