GNE- MYOPATHY WITH A HOMOZYGOUS MUTATION OF A 48-YEAR-OLD UKRAINIAN WOMAN

Nonaka myopathy is a rare autosomal recessive genetic disorder characterized by progressive degeneration of distal muscles, leading to muscle weakness. The disease is caused by mutations in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. This study was conducted to clarify the clinical diagnosis and assess the risk of neurological disease occurrence in the patient's offspring. A missense mutation c.1985C<T (p.Ala662Val) in the GNE gene was identified in exon 11 in a homozygous state through panel sequencing.