Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Neuromuscular Disorders

Volumn 24, Issue 11, 2014, Pages 986-989

  Zatz, M ^a   Pavanello, R C M ^a   Lazar, M ^a   Yamamoto, G L ^a   Lourenco N C V ^a   Cerqueira, A ^a   Nogueira, L ^a   Vainzof, M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Duchenne dystrophy; Milder progression; No dystrophin; Nonsense mutation

Indexed keywords

CREATINE KINASE; DYSTROPHIN; ACTIN; DMD PROTEIN, HUMAN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LTBP4 PROTEIN, HUMAN; STOP CODON;

ACTN3 GENE; ADOLESCENT; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; GASTROCNEMIUS MUSCLE; GENE; GENE DELETION; HUMAN; LTBP4 GENE; MALE; MUSCLE HYPERTROPHY; MUSCLE LEVEL; MUSCLE WEAKNESS; NONSENSE MUTATION; ONSET AGE; RARE DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; SPP1 GENE; FEMALE; GENETICS; STOP CODON;

ACTINS; ADOLESCENT; CODON, NONSENSE; DYSTROPHIN; FEMALE; HUMANS; LATENT TGF-BETA BINDING PROTEINS; MALE; MUSCULAR DYSTROPHY, DUCHENNE;

EID: 84922280399     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.06.003     Document Type: Article

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