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CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
Mauri, Eleonora; Piga, Daniela; Pagliarani, Serena; Magri, Francesca; Manini, Arianna; Sciacco, Monica; Ripolone, Michela; Napoli, Laura; Borellini, Linda; Cinnante, Claudia; Cassandrini, Denise; Corti, Stefania; Bresolin, Nereo; Comi, Giacomo Pietro; Govoni, Alessandra.
Affiliation
  • Mauri E; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
  • Piga D; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
  • Pagliarani S; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
  • Magri F; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
  • Manini A; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
  • Sciacco M; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
  • Ripolone M; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
  • Napoli L; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
  • Borellini L; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuropathophysiology Unit, Milan, Italy.
  • Cinnante C; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuroradiology Unit Milan, Italy.
  • Cassandrini D; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Corti S; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
  • Bresolin N; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
  • Comi GP; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
  • Govoni A; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy. Electronic address: alessandra.govoni@policlinico.mi.it.
J Neurol Sci ; 431: 120047, 2021 Dec 15.
Article in En | MEDLINE | ID: mdl-34763287
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Structural, Congenital / Muscular Diseases / Myotonia Congenita Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Neurol Sci Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Netherlands
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myopathies, Structural, Congenital / Muscular Diseases / Myotonia Congenita Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Neurol Sci Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Netherlands