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Gne- Myopathy With a Homozygous Mutation of a 48-year-old Ukrainian Woman

Year: 2024

Type: article

Abstract: 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

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.14230853

Authors: Dutchak Anastasiia, Kornutii Oleksandr, Bondarenko Maya

Institution: Ivano-Frankivsk National Medical University

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W6930660470

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