Population
HIBM patients and normal control subjects
Comparison
Analysis of GNE protein expression and… vs Normal control subjects
Design
Other
Authors
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Equal GNE expression in HIBM does not support expression-targeted therapies; leaves open functional impairment mechanisms for study.
Impaired GNE function, rather than lack of expression, is likely the key pathogenic factor in HIBM, meaning diagnosis requires direct genetic analysis rather than protein staining.
Krause et al. (2007) studied this question.