A novel homozygous variant in dysf gene is associated with autosomal recessive limb girdle muscular dystrophy r2/2b

HIGHLIGHTS

• who: Patrizia Spadafora et al. from the Institute for Biomedical Research and Innovation, National Research Council, CS Mangone, Italy Department of Medical and Surgical Sciences, Magna Graecia University, CZ Germaneto, Italy have published the research work: A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B, in the Journal: (JOURNAL) of 28/Nov/2018
• what: The authors report new missense variant c.5033G>A p.Cys1678Tyr (NM_003494) in the exon 45 of gene related to type R2/2B in 57-year-old patient affected with LGMD from . . .
  

   

  

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