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Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella, Gemma; Orsini, Alessandro; Scacciati, Massimo; Costa, Elisa; Santangelo, Andrea; Astrea, Guja; Frosini, Silvia; Pasquariello, Rosa; Rubegni, Anna; Sgherri, Giada; Corsi, Martina; Bonuccelli, Alice; Battini, Roberta.
Affiliation
  • Marinella G; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Orsini A; Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, 56100 Pisa, Italy.
  • Scacciati M; Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, 56100 Pisa, Italy.
  • Costa E; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
  • Santangelo A; Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, 56100 Pisa, Italy.
  • Astrea G; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
  • Frosini S; Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, 56100 Pisa, Italy.
  • Pasquariello R; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
  • Rubegni A; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Sgherri G; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Corsi M; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Bonuccelli A; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
  • Battini R; Department of Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Genes (Basel) ; 14(7)2023 06 28.
Article in En | MEDLINE | ID: mdl-37510268
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Diseases / Myotonia Congenita Type of study: Guideline / Systematic_reviews Limits: Female / Humans Language: En Journal: Genes (Basel) Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Diseases / Myotonia Congenita Type of study: Guideline / Systematic_reviews Limits: Female / Humans Language: En Journal: Genes (Basel) Year: 2023 Document type: Article Affiliation country: Country of publication: