Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

Neurology

Volumn 65, Issue 12, 2005, Pages 1984-1986

  Hoogerwaard, Edo M ^a,c   Ginjaar, Ieke B ^b   Bakker, Egbert ^b   De Visser, Marianne ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RIJNSTATE HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DNA; DYSTROPHIN;

ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DNA DETERMINATION; DUCHENNE MUSCULAR DYSTROPHY; DYNAMOMETRY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE WEAKNESS; MYALGIA; NEEDLE BIOPSY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; VASTUS LATERALIS MUSCLE; WESTERN BLOTTING; ADOLESCENT; BIOPSY; CARDIOMYOPATHY; CROSS-SECTIONAL STUDY; GENETIC PREDISPOSITION; GENETICS; HEART MUSCLE; HETEROZYGOTE; METABOLISM; MIDDLE AGED; PATHOLOGY; PATHOPHYSIOLOGY; PROSPECTIVE STUDY; SKELETAL MUSCLE;

ADOLESCENT; ADULT; BIOPSY; CARDIOMYOPATHIES; CROSS-SECTIONAL STUDIES; DYSTROPHIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; MYOCARDIUM; PROSPECTIVE STUDIES;

EID: 33645746833     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000188909.89849.59     Document Type: Article

References (10)

1. Arahata K, Ishihara T, Kamakura K, et al. Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl J Med 1989;320:138-142.
2. Bonilla E, Schmidt B, Samitt CE, et al. Normal and dystrophin-deficient muscle fibres in carriers of the gene for Duchenne muscular dystrophy. Am J Pathol 1988;133:440-445.
3. Clerk A, Rodillo E, Heckmatt JZ, Dubowitz V, Strong PN, Sewry CA. Characterisation of dystrophin in carriers of Duchenne muscular dystrophy. J Neurol Sci 1991;102:197-205.
4. Sewry CA, Sansome A, Clerk A, et al. Manifesting carriers of Xp21 muscular dystrophy; lack of correlation between dystrophin expression and clinical weakness. Neuromuscul Disord 1993;3:141-148.
5. Vainzof M, Pavanello RC, Pavanello I, et al. Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages. Neuromuscul Disord 1991;1:177-183.
6. Mora M, Morandi L, Piccinelli A, et al. Dystrophin abnormalities in Duchenne and Becker dystrophy carriers: correlation with cytoskeletal proteins and myosins. J Neurol 1993;240:455-461.
7. Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study. Lancet 1999;353:2116-2119.
8. Nicholson LVB, Davison K, Falkous G, et al. Dystrophin in skeletal muscle: I. Western blot analysis using a monoclonal antibody. J Neurol Sci 1989;94:125-136.
9. Sewry CA, Wilson LA, Dux L, Dubowitz V, Cooper BJ. Experimental regeneration in canine muscular dystrophy-1. Immunocytochemical evaluation of dystrophin and beta-spectrin expression. Neuromusc Disord 1992;2:331-342.
10. Pegoraro E, Schimke RN, Garcia C, et al. Genetic and biochemical normalisation in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology 1995;45:677-690.