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Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.
Trovato, Rosanna; Astrea, Guja; Bartalena, Laura; Ghirri, Paolo; Baldacci, Jacopo; Giampietri, Matteo; Battini, Roberta; Santorelli, Filippo M; Fiorillo, Chiara.
Affiliation
  • Trovato R; 1Molecular Medicine and Neuromuscular Unit, IRCCS Stella Maris, Pisa, Italy.
J Child Neurol ; 29(3): 394-8, 2014 Mar.
Article in En | MEDLINE | ID: mdl-23420653
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Cerebellum / Mutation, Missense / Creatine Kinase / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Female / Humans / Newborn Country/Region as subject: Africa Language: En Journal: J Child Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2014 Document type: Article Affiliation country: Italy Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Cerebellum / Mutation, Missense / Creatine Kinase / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Female / Humans / Newborn Country/Region as subject: Africa Language: En Journal: J Child Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2014 Document type: Article Affiliation country: Italy Country of publication: United States