PURA Syndrome and Myotonia

Pediatr Neurol. 2020 Mar:104:62-63. doi: 10.1016/j.pediatrneurol.2019.09.008. Epub 2019 Oct 19.

Authors

Steven P Trau¹, Carolyn E Pizoli²

Affiliations

¹ Division of Neurology, Department of Pediatrics, Duke University Children's Hospital and Duke University School of Medicine, Durham, North Carolina. Electronic address: steven_trau@neurology.unc.edu.
² Division of Neurology, Department of Pediatrics, Duke University Children's Hospital and Duke University School of Medicine, Durham, North Carolina.

PMID: 31911028
DOI: 10.1016/j.pediatrneurol.2019.09.008

No abstract available

Keywords: Myotonia; Neonatal hypotonia; Neurodevelopmental delay; PURA syndrome; Purine-rich element binding protein A.

Publication types

Case Reports
Letter

MeSH terms

DNA-Binding Proteins / genetics*
Humans
Infant, Newborn
Male
Muscle Hypotonia / genetics*
Myotonia / genetics*
Neurodevelopmental Disorders / genetics*
Syndrome
Transcription Factors / genetics*

Substances

DNA-Binding Proteins
PURA protein, human
Transcription Factors