Examination of an Estonian patient helped discover a new form of muscular dystrophy ...Middle East

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The examination of an Estonian girl with progressive muscle weakness brought about collaboration of researchers from ten countries, which led to the discovery of a new form of muscular dystrophy caused by changes in the Jagged2 (JAG2) gene. In the research, a special muscle magnetic resonance imaging study was used in Estonia for the first time, revealing a pattern of muscle involvement characteristic of pathogenic variants in JAG2.

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