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Updated: May 18, 2026

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
Published on: September 29, 2014
[Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I]
Abstract:
Seventy four patients with clinical presentation of LGMD and probably autosomal-recessive type of inheritance were examined. Five different mutations of FKRP gene responsible for LGMD2 type I were detected in eight (10.8%) patients. Two of them с.341C>G, c.826C>A were described before and three c.229C>T, с.265C>T, с.1078G>C were found for the first time. The significant clinical polymorphism due to the difference in age of manifestation and severity of clinical presentation was identified.
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