Single Gene Disorders Home > Duchenne/Becker Muscular Dystrophy (DBMD) > References

References

Cardiomyopathy and female carriers:

Comi LI, Nigro G, Politano L, Petretta VR.. The cardiomyopathy of Duchenne/Becker consultands. Int J Cardiol 1992;34(3):297–305.

Grain L, Cortina-Borja M, Forfar C, Hilton-Jones D, Hopkin J, Burch M. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 2001;11(2):186–91.

Hoogerwaard EM, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, Leschot NJ, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999;353(9170):2116-9.

Politano L, Nigro V, Nigro G, Petretta VR, Passamano L, Papparella S, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996;275(17):1335–8.

Genetic Testing Issues:

Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 2003;72:931–9.

Hodgson SV, Abbs S, Clark S, Manzur A, Heckett ZH, Dubowitz V, et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy with special reference to mental ability. Neuromuscul Disord 1992;2:269–76.

Mendell JR, Buzin CH, Feng J, Yan J, Serrano C, Sangani DS, et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurol 2001;57:645–50.

Miller RG, Hoffman EP. Molecular diagnosis and modern management of Duchenne muscular dystrophy. Neurol Clin 1994;12:699–725.

Incidence Estimates:

Bradley DM, Parsons EP, Clarke AJ. Experience with screening newborns for Duchenne muscular dystrophy in Wales. BMJ 1993;6:357–60.

Drousiotou A, Ioannou P, Georgiou T, Mavrikiou E, Christopoulos G, Kyriakides T, et al. Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus. Genet Test 1998;2:55–60.

Greenberg CR, Jacobs HK, Halliday W, Wrogemann K Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction. Am J Med Genet 1991;39:68–75.

Treatment with Steroids

Wong BLY, Christopher C. Corticosteroids in Duchenne muscular dystrophy: a reappraisal. J Child Neurol 2002;7:183–90.

[Return to Top]

Date: September 1, 2006
Content source: National Center on Birth Defects and Developmental Disabilities