Mutation spectrum and phenotypic manifestation in FSHD Greek patients

• Published in: Neuromuscular disorders : NMD Vol. 22; no. 4; pp. 339 - 349
• Main Authors: Sakellariou, P, Kekou, K, Fryssira, H, Sofocleous, C, Manta, P, Panousopoulou, A, Gounaris, K, Kanavakis, E
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.04.2012
• Subjects: 4q35; Adolescent; Adult; Aged; Aged, 80 and over; Asymptomatic; Child; Child, Preschool; Chromosomes, Human, Pair 4; D4Z4; Data processing; Deoxyribonuclease EcoRI; Female; Founder effect; FSHMD; Genetic analysis; Genetic Testing; Greece; Humans; Male; Middle Aged; Muscular dystrophy; Muscular Dystrophy, Facioscapulohumeral - diagnosis; Muscular Dystrophy, Facioscapulohumeral - genetics; Mutation; Mutation - genetics; Myopathy; Neurology; neuromuscular system; Phenotype; Twins; Twins, Monozygotic - genetics; Young Adult; Greece; Phenotype; Asymptomatic; FSHMD; D4Z4; 4q35

Abstract Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic myopathy with a remarkable intra- and inter-familial clinical heterogeneity. This study reports the clinical and genetic analysis of 133 individuals from 71 unrelated Greek families based on a revised Clinical Severity Score (rCSS)...