Key result
Novel compound heterozygous GNE mutations identified in two sisters with hereditary inclusion-body myopathy.
Population
Two sisters affected with autosomal-recessive hereditary inclusion-body myopathy (h-IBM)
Design
Case_report
Authors
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May expand GNE testing panels in suspected h-IBM; leaves open the full mutational spectrum pending larger studies.
Case Report (n=2)
This study identifies the first deletion event observed in a GNE allele, expanding the known molecular pathogenesis of autosomal-recessive hereditary inclusion-body myopathy.
Bo et al. (2003) conducted a case report in autosomal-recessive hereditary inclusion-body myopathy (h-IBM) (n=2). GNE gene mutations (large deletion involving exons 1-9 and R162C amino acid change) was evaluated on Identification of GNE mutations. Two sisters with autosomal-recessive hereditary inclusion-body myopathy were found to be compound heterozygous for a novel large deletion and a missense mutation in the GNE gene.
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