PACSIN3 的双叶截短变体会导致伴有高钾血症的儿童型肌病。

F. Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, A. Seibt, A. Gangfuss, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, S. Nikolin, Joachim Weis, Andreas Roos, Tobias B. Haack
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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
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Vaccination with structurally modified fungal protein fibrils: a new treatment for synucleinopathies? Serum GFAP levels correlate with astrocyte reactivity, post-mortem brain atrophy and neurofibrillary tangles. Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia. Blood GFAP reflects astrocyte reactivity to Alzheimer's pathology in post-mortem brain tissue. Correction to: Disrupted daily activity/rest cycles in relation to daily cortisol rhythms of home-dwelling patients with early Alzheimer's dementia.
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