Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures

Neuromuscular Disorders

Volumn 13, Issue 4, 2003, Pages 317-321

  Helderman van Den Enden, A T J M ^a   Ginjaar, H B ^a   Kneppers, A L J ^a   Bakker, E ^a   Breuning, M H ^a   De Visser, M ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Asymmetrical muscle weakness; Contracture; Dystrophin gene; Point mutation; Somatic mosaicism

Indexed keywords

DNA; DYSTROPHIN;

ADULT; AMBULATORY CARE; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DNA DETERMINATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROMYOGRAPHY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KARYOTYPE; LABORATORY TEST; MALE; MOSAICISM; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NEUROLOGIC EXAMINATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTHROMBIN TIME;

EID: 0041525500     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00285-7     Document Type: Article

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