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Showing 1–3 of 3 results
Advanced filters: Author: W.-Ludo van der Pol Clear advanced filters

  • Multifocal motor neuropathy (MMN) is a rare inflammatory disorder that features slowly progressive, asymmetric distal limb weakness. Leonard van den Berg and colleagues describe the diagnostic criteria for MMN, which are important for distinguishing this disease from mimic disorders such as amyotrophic lateral sclerosis. The authors also discuss the pathophysiology of MMN, emphasizing the role of GM1-specific autoantibodies, and outline current treatment options and possible new therapeutic strategies.

    • Lotte Vlam
    • W.-Ludo van der Pol
    • Leonard H. van den Berg
    Reviews
    Nature Reviews Neurology
    Volume: 8, P: 48-58

  • Michael Duchen, Francesco Muntoni, Eamonn Sheridan and colleagues show that loss-of-function mutations in MICU1 cause a recessive disorder characterized by proximal myopathy, learning difficulties and progressive extrapyramidal motor deficits. The mutations alter mitochondrial calcium homeostasis, leading to mitochondrial damage and dysfunction.

    • Clare V Logan
    • György Szabadkai
    • Eamonn Sheridan
    Research
    Nature Genetics
    Volume: 46, P: 188-193