title: Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L.
authors.affiliation: Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy. Electronic address: tasca.giorgio@virgilio.it.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Tasca
authors.affiliation: Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Anni
authors.initials: A
authors.lastname: Evilä
authors.affiliation: Pediatric Neurology Unit, Catholic University School of Medicine, Rome, Italy.
authors.forename: Marika
authors.initials: M
authors.lastname: Pane
authors.affiliation: Institute of Neurology, Catholic University School of Medicine, Rome, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Monforte
authors.affiliation: Pediatric Neurology Unit, Catholic University School of Medicine, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Graziano
authors.affiliation: Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
authors.forename: Peter
authors.initials: P
authors.lastname: Hackman
authors.affiliation: Pediatric Neurology Unit, Catholic University School of Medicine, Rome, Italy.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.affiliation: Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland; Neurology Department, Vaasa Central Hospital, Vaasa, Finland.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
mesh_terms: D000293:Adolescent; D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics; D018450:Disease Progression; D006801:Humans; D007866:Leg / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000473:pathology*; D010388:Pelvis / Q000473:pathology; D010641:Phenotype
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels
keywords: Anoctamin-5; LGMD2L; Muscle MRI; Semitendinosus