Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy - Scionti, Isabella; Greco, Francesca; Ricci, Giulia; Govi, Monica; Arashiro, Patricia; Vercelli, Liliana; Berardinelli, Angela; Angelini, Corrado; Antonini, Giovanni; Cao, Michelangelo; Di Muzio, Antonio; Moggio, Maurizio; et al. (American journal of human genetics, 2012)
Keywords: Adult; Aged; Biological and medical sciences; Biomarkers; Brazil - epidemiology; chromosome 4; Chromosomes, Human, Pair 4 - genetics; Diseases of striated muscles. Neuromuscular diseases; DNA; Female; Fundamental and applied biological sciences. Psychology; Gene expression; Gene polymorphism; General aspects. Genetic counseling; Genetic Testing; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Haplotypes - genetics; Humans; Italy - epidemiology; Male; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Muscular dystrophy; Muscular Dystrophy, Facioscapulohumeral - diagnosis; Muscular Dystrophy, Facioscapulohumeral - genetics; Myopathy; Neurology; Polymorphism; Polymorphism, Genetic; Prenatal diagnosis; Tandem Repeat Sequences - genetics; Brazil; Italy; Human; Nervous system diseases; Neuromuscular diseases; Evaluation scale; Genetics; Population; Diagnosis; Muscular dystrophy; Genetic disease