Your browser doesn't support javascript.
loading
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri, Francesca; Antognozzi, Sara; Ripolone, Michela; Zanotti, Simona; Napoli, Laura; Ciscato, Patrizia; Velardo, Daniele; Scuvera, Giulietta; Nicotra, Valeria; Giacobbe, Antonella; Milani, Donatella; Fortunato, Francesco; Garbellini, Manuela; Sciacco, Monica; Corti, Stefania; Comi, Giacomo Pietro; Ronchi, Dario.
Afiliação
  • Magri F; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
  • Antognozzi S; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Ripolone M; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
  • Zanotti S; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
  • Napoli L; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
  • Ciscato P; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
  • Velardo D; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
  • Scuvera G; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Woman-Child-Newborn Department, Milan, Italy.
  • Nicotra V; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Woman-Child-Newborn Department, Milan, Italy.
  • Giacobbe A; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy.
  • Milani D; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neonatal Intensive Care Unit, Milan, Italy.
  • Fortunato F; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Garbellini M; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
  • Sciacco M; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
  • Corti S; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
  • Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Ronchi D; IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Skelet Muscle ; 12(1): 23, 2022 09 29.
Article em En | MEDLINE | ID: mdl-36175989
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colina Quinase / Distrofias Musculares Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colina Quinase / Distrofias Musculares Idioma: En Ano de publicação: 2022 Tipo de documento: Article