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CNS-ICNA 2020

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Researchers identify a new form of muscular dystrophy

Variants in the JAG2 gene are linked to a new form of limb-girdle muscular dystrophy (LGMD), researchers have reported.

JAG2 encodes the Notch ligand Jagged2. According to Dr Sandra Coppens of the Université Libre de Bruxelles, in Brussels, Belgium, “the highly conserved Notch signaling pathway contributes to the development and homeostasis of multiple tissues, including skeletal muscle.” Until now, JAG2 has not been linked to congenital myopathy.

Dr Coppens and colleagues described 17 patients from 11 families with JAG2 variants and LGMD. The key findings were as follows:

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