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December 25, 2016Annals of NeurologyOpen Access

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis

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Population

18 patients with sporadic inclusion body myositis for proteomic analysis, and 62 sIBM patients for whole…

Comparison

Laser microdissection and mass spectrometry of… vs Intact myofibers and controls.

Design

Other

Authors

AGAnne‐Katrin GüttschesSBStefen BradyKKK. Krause

Discussion

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Overview

Rare FYCO1 variants may increase sIBM susceptibility; hypothesis-generating and should not yet alter clinical practice or testing.

Structured PICO

P
Population
18 patients with sporadic inclusion body myositis (sIBM) for proteomic analysis, and 62 sIBM patients for whole exome sequencing.
I
Intervention
Laser microdissection and mass spectrometry of rimmed vacuoles (RVs); whole exome sequencing.
C
Comparator
Intact myofibers (for proteomics) and controls (for exome sequencing).
O
Outcome
Proteins enriched in rimmed vacuoles and genetic variants associated with sIBM.surrogate

Proteomic and genomic analysis identifies FYCO1 accumulation and rare missense variants as a novel risk factor and potential pathogenic mechanism in sporadic inclusion body myositis.

Cite This Study

Güttsches et al. (2016) studied this question.

synapsesocial.com/papers/6a82c3ca0e1c3f48100f747fhttps://doi.org/10.1002/ana.24847
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  3. 3A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis2014 · 101 citations