Key result
Two novel GNE mutations confirm hereditary inclusion body myopathy in progressive lower extremity weakness.
Why the study?
Hereditary inclusion body myopathy is caused by mutations in the GNE gene, but novel mutations continue to be identified, expanding understanding of the disorder.
Case Report (n=1)
Case of GNE myopathy supports broader genetic testing in early-adult weakness; leaves open targeted therapies for this rare disorder.
Hereditary inclusion body myopathy is an autosomal recessive disorder that presents in early adulthood with slowly progressive weakness sparing the quadriceps. Muscle histopathology reveals rimmed vacuoles without inflammation. The disorder is caused by a mutation in the gene for UDP-N-acetylglucosamine 2-epimerase-N-acetylmannosamine kinase (GNE), a bifunctional enzyme involved in protein glycosylation. Over 40 mutations have been described to date. We present a case of a young woman with progressive lower extremity weakness. Clinical presentation, laboratory evaluation, electrodiagnostic testing, muscle pathology, and genetic sequencing are described. The patient was found to have heterozygous mutations in the GNE gene, confirming the diagnosis of hereditary inclusion body myopathy. The mutations she carried have not been described previously. We briefly review the clinical, histopathologic, and molecular genetic findings of this disorder.
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Fisher et al. (2006) conducted a case report in Hereditary inclusion body myopathy (n=1). GNE gene mutations was evaluated on Identification of genetic mutations. A young woman with progressive lower extremity weakness was found to have two previously undescribed heterozygous mutations in the GNE gene, confirming hereditary inclusion body myopathy.