Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy

Pediatric Neurology

Volumn 55, Issue , 2016, Pages 58-63

  Papa, Riccardo ^a   Madia, Francesca ^a   Bartolomeo, Domenico ^a   Trucco, Federica ^a   Pedemonte, Marina ^a   Traverso, Monica ^a   Broda, Paolo ^a   Bruno, Claudio ^a   Zara, Federico ^a   Minetti, Carlo ^a,b   Fiorillo, Chiara ^b  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

Duchenne muscular dystrophy; female carrier; pediatric

Indexed keywords

CREATINE KINASE; DYSTROPHIN; DMD PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; DISEASE COURSE; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAPHY; EXERCISE; EXON; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GAIT DISORDER; GENE DELETION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; LEARNING DISORDER; LIMB WEAKNESS; MISSENSE MUTATION; MUSCLE BIOPSY; NONSENSE MUTATION; PRIORITY JOURNAL; PROBLEM BEHAVIOR; SCOLIOSIS; BLOOD; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CREATINE KINASE; DYSTROPHIN; ELECTROMYOGRAPHY; FEMALE; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; SEQUENCE DELETION;

EID: 84950335812     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2015.11.004     Document Type: Article

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