A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 612 to glutamine in an iranian patient. this mutation is located in exon 10 within the kinase domain of the protein.