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Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report.

Francesco NicitaLorena TravagliniFrancesco BombelliMichele TosiStefano ProEnrico Silvio BertiniAdele D'Amico
Published in: Neurology. Genetics (2021)
pathogenic variants. This form enlarges the group of the so-called pyramidal-extrapyramidal syndromes, as well as complex hereditary spastic paraparesis with TCC.
Keyphrases
  • copy number
  • botulinum toxin
  • dna methylation
  • upper limb