Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy - double trouble as an explanation for an atypical phenotype

Neuromuscular Disorders

Volumn 18, Issue 11, 2008, Pages 881-885

  Rudnik Schoneborn S ^a   Weis, J ^a   Kress, W ^b   Hausler M ^a   Zerres, K ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Atypical phenotype; Becker's muscular dystrophy; Donor splice site mutation; Dystrophin gene; Facioscapulohumeral muscular dystrophy

Indexed keywords

CREATINE KINASE; DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CLINICAL EXAMINATION; CREATINE KINASE BLOOD LEVEL; DISEASE EXACERBATION; ELECTROMYOGRAPHY; FACE MUSCLE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTELLIGENCE QUOTIENT; LABORATORY TEST; LANGUAGE DISABILITY; MALE; MENTAL DISEASE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUSCLE WEAKNESS; PHENOTYPE; PHYSIOTHERAPY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOLOGIC TEST; SCHOOL CHILD; SCREENING; SHOULDER GIRDLE; SOUTHERN BLOTTING; WESTERN BLOTTING;

CHILD; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; HUMANS; MALE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY, DUCHENNE; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 53049098568     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.06.387     Document Type: Article

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