首页> Italian journal of pediatrics> Congenital myopathies: clinical phenotypes and new diagnostic tools.

Congenital myopathies: clinical phenotypes and new diagnostic tools.

导出 OA

翻译打印收藏纠错

第一作者： Denise,Cassandrini

第一单位： Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.

作者： Denise,Cassandrini ^[1] ; Rosanna,Trovato ^[1] ; Anna,Rubegni ^[1] ; Sara,Lenzi ^[2] ; Chiara,Fiorillo ^[3] ; Jacopo,Baldacci ^[1] ; Carlo,Minetti ^[4] ; Guja,Astrea ^[2] ; Claudio,Bruno ^[5] ; Filippo M,Santorelli ^[6] ; Italian Network on Congenital Myopathies

作者单位： Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy. ^[1] Neurology, IRCCS Fondazione Stella Maris, Pisa, Italy. ^[2] Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.;Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy. ^[3] Unit of Pediatric Neurology and Muscular Disorders, Istituto G. Gaslini, Genoa, Italy.;Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy. ^[4] Department of Neuroscience, Center of Myology and Neurodegenerative Disorders, Istituto G. Gaslini, Genoa, Italy. ^[5] Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy. filippo3364@gmail.com. ^[6]

关键词 Congenital myopathy Muscle MRI Muscle biopsy Next generation sequencing