Abstract
Analysis for GNE mutations was performed in an American, non-Iranian Jewish, family with quadriceps-sparing inclusion body myopathy (QS-IBM) and in 11 patients with sporadic IBM (s-IBM). Two novel nonallosteric site missense mutations were found in the QS-IBM kinship. No mutations were identified in s-IBM patients. After 8 years of follow-up and severe disease progression, the quadriceps muscle in the QS-IBM patient remains strong despite subclinical involvement documented with repeat MRI and muscle biopsy.
MeSH terms
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Adult
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Carbohydrate Epimerases / genetics*
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Cloning, Molecular
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Disease Progression
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Escherichia coli Proteins*
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Exons / genetics
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Female
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Follow-Up Studies
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Genotype
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Humans
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Magnetic Resonance Imaging
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Muscle Weakness / genetics
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Muscle Weakness / pathology
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Muscle, Skeletal / pathology*
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Mutation / genetics*
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Myositis, Inclusion Body / genetics*
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Myositis, Inclusion Body / pathology*
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Pedigree
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Polymorphism, Single-Stranded Conformational
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RNA / genetics
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Reverse Transcriptase Polymerase Chain Reaction
Substances
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Escherichia coli Proteins
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RNA
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Carbohydrate Epimerases
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UDP acetylglucosamine-2-epimerase
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wecB protein, E coli