The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice

Neuromuscular Disorders

Volumn 23, Issue 1, 2013, Pages 4-14

  Ferlini, Alessandra ^a   Neri, Marcella ^a   Gualandi, Francesca ^a  

^a UNIVERSITY OF FERRARA   (Italy)

Author keywords

Duchenne and Becker muscular dystrophies; Dystrophin; Genotype phenotype correlation; Molecular genetics; Mutations

Indexed keywords

ALPHA ACTININ; ANTISENSE OLIGONUCLEOTIDE; ATALUREN; CORTICOSTEROID; DYSTROBREVIN; DYSTROPHIN; GELATINASE B; GENTAMICIN; OSTEOPONTIN; UTROPHIN;

ANTISENSE THERAPY; BECKER MUSCULAR DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHIN GENE; DYSTROPHINOPATHY; EXON SKIPPING; FRAMESHIFT MUTATION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; MOLECULAR GENETICS; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PERSONALIZED MEDICINE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN STRUCTURE; REVIEW; SEQUENCE HOMOLOGY;

DYSTROPHIN; FEMALE; GENETIC TESTING; GENOTYPE; HUMANS; MALE; MOLECULAR BIOLOGY; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PHENOTYPE; PHYSICIAN'S PRACTICE PATTERNS;

EID: 84872374881     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.09.002     Document Type: Review

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