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We identified a novel homozygous missense mutation (c.5302G>C) in exon 31 of AGRN leading to the substitution of alanine to proline in the C-terminal LG2 domain of agrin (p.
In conclusion, we report a Chinese CMS pedigree with a novel AGRN mutation only affecting limb-girdle muscle.
A novel missense variant in the AGRN gene; congenital myasthenic syndrome presenting with head drop.