{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T05:30:19Z","timestamp":1773811819316,"version":"3.50.1"},"reference-count":9,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pur-\u03b1 protein (PURA) syndrome manifests in early childhood with core features such as neurodevelopmental and speech delay, feeding difficulties, epilepsy, and hypotonia at birth. We identified three cases with PURA syndrome in a cohort of patients with unexplained muscular weakness, presenting with a predominantly neuromuscular and ataxic phenotype. We further characterize the clinical presentation of PURA syndrome including myopathic facies and muscular weakness as the main clinical symptoms in combination with elevated serum creatine kinase levels. Furthermore, we report two novel variants located in the conservative domains PUR-I and PUR-II. For the first time, we present the muscle biopsies of PURA syndrome patients, showing myopathic changes, fiber size variability, and fast fiber atrophy as the key features. PURA syndrome should be taken into consideration as a differential diagnosis in pediatric patients with unexplained muscle weakness.<\/jats:p>","DOI":"10.1055\/s-0040-1715625","type":"journal-article","created":{"date-parts":[[2020,12,23]],"date-time":"2020-12-23T00:17:43Z","timestamp":1608682663000},"page":"390-393","source":"Crossref","is-referenced-by-count":9,"title":["Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease"],"prefix":"10.1055","volume":"52","author":[{"given":"Magdalena","family":"Mroczek","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitrios","family":"Zafeiriou","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Aristotle University of Thessaloniki, \u201cHippokratio\u201d General Hospital, Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana","family":"Gurgel-Gianetti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Vilela Morais de Azevedo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University of Duisburg-Essen, University Hospital Essen, Faculty of Medicine, Essen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrika","family":"Bartels","sequence":"additional","affiliation":[{"name":"Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolai","family":"Kohlschmidt","sequence":"additional","affiliation":[{"name":"Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahul","family":"Phadke","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Feng","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Duff","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2020,12,22]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.gene.2017.12.004","article-title":"PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions","volume":"643","author":"D C Daniel","year":"2018","journal-title":"Gene"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1002\/jnr.20806","article-title":"Role of Pur alpha in targeting mRNA to sites of translation in hippocampal neuronal dendrites","volume":"83","author":"E M Johnson","year":"2006","journal-title":"J Neurosci Res"},{"issue":"12","key":"ref3","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1136\/jmedgenet-2014-102798","article-title":"Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability","volume":"51","author":"D Hunt","year":"2014","journal-title":"J Med Genet"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1002\/ajmg.a.38521","article-title":"Expanding the neurodevelopmental phenotype of PURA syndrome","volume":"176","author":"B H Lee","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1136\/jmedgenet-2017-104946","article-title":"PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature","volume":"55","author":"M RF Reijnders","year":"2018","journal-title":"J Med Genet"},{"issue":"12","key":"ref6","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1136\/jmedgenet-2014-102798","article-title":"Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause 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5q31.3 microdeletion syndrome","volume":"95","author":"S R Lalani","year":"2014","journal-title":"Am J Hum Genet"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1715625.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T22:34:00Z","timestamp":1632177240000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1715625"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,22]]},"references-count":9,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2021,9,20]]},"published-print":{"date-parts":[[2021,10]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1715625","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,22]]}}}