Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles. LGMD R27, linked to biallelic pathogenic variants in the JAG2 gene, was rece...

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Main Authors: Sergey Nikitin (Author), Evgeniya Melnik (Author), Inna Sharkova (Author), Aysylu Murtazina (Author), Olga Shchagina (Author), Victoriia Zabnenkova (Author), Vadim Tsargush (Author), Elena Dadali (Author), Sergey Kutsev (Author)
Format: Book
Published: Frontiers Media S.A., 2024-11-01T00:00:00Z.
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