Is leukodystrophy really a feature of PIGT-CDG?

Clicks: 213
ID: 95643
2020
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Ranked #2 of 3 articles by views in neuropathology and applied neurobiology

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Abstract
We have read with great interest the description of neuropathological findings in a deceased 11-month-old child with PIGT-CDG (compound heterozygote, c.1472T>A; c.1484+2T>A), described by Dr KB Larsen et al. (1). This ultra-rare disease, a defect in glycosylphosphatidylinositol (GPI) biosynthesis, is also known under the acronym MCAHS3, multiple congenital anomalies-hypotonia-seizures syndrome-3 (OMIM 615398). Accordingly, hypotonia, markedly delayed development and epilepsy are among the core manifestations.
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mierzewska2020isneuropathology Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Mierzewska, Hanna;Jezela-Stanek, Aleksandra;
Journal neuropathology and applied neurobiology
Year 2020
DOI
10.1111/nan.12609
URL
Keywords
jak inhibitor granulomatous disorder leg ulcer necrobiosis lipoidica

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