Mutation spectrum and phenotypic manifestation in FSHD Greek patients

Neuromuscular Disorders

Volumn 22, Issue 4, 2012, Pages 339-349

  Sakellariou, P ^a   Kekou, K ^a   Fryssira, H ^a   Sofocleous, C ^a   Manta, P ^a   Panousopoulou, A ^b   Gounaris, K ^a   Kanavakis, E ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b RED CROSS HOSPITAL   (Greece)

Author keywords

4q35; Asymptomatic; D4Z4; FSHMD; Phenotype

Indexed keywords

CREATINE KINASE; DNA FRAGMENT; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 4Q; CLINICAL ASSESSMENT; CLINICAL SEVERITY SCORE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE COURSE; DYSARTHRIA; ELECTROMYOGRAM; FACIAL EXPRESSION; FACIAL NERVE PARALYSIS; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; GREECE; HETEROZYGOTE DETECTION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERSALIVATION; INTELLIGENCE QUOTIENT; LORDOSIS; LUNG INFECTION; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MICROSATELLITE MARKER; MOLECULAR DIAGNOSIS; MONOZYGOTIC TWINS; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCORING SYSTEM; SPEECH DISORDER; TWIN DISCORDANCE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 4; DEOXYRIBONUCLEASE ECORI; FEMALE; GENETIC TESTING; GREECE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MUTATION; PHENOTYPE; TWINS, MONOZYGOTIC; YOUNG ADULT;

EID: 84858800362     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.11.001     Document Type: Article

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