Muscular phenotype description of abnormal THOC2 splicing
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference15 articles.
1. Novel consensus splice site pathogenic variation in THOC2 gene leads to recurrent arthrogryposis multiplex congenita phenotype: a case report;Tamhankar;Cureus,2021
2. Expanding clinical presentations due to variations in THOC2 mRNA nuclear export factor;Kumar;Front Mol Neurosci,2020
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4. Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods;Donkervoort;Neuromuscul Disord,2017
5. Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease;Vajsar;Neurology,1998
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