Rare combination of Becker muscular dystrophy and Klinefelter's syndrome in one patient

Brain and Development

Volumn 19, Issue 5, 1997, Pages 359-361

  Zeitoun, Omeima ^a   Ketelsen, Uwe Peter ^a   Wolff, Gerhard ^a   Müller, Clemens R ^b   Korinthenberg, Rudolf ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Becker muscular dystrophy; Dystrophin gene deletion; Klinefelter's syndrome; Sex chromosome aberration

Indexed keywords

DYSTROPHIN;

ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CONTROLLED STUDY; EXON; GENE DELETION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOLOGY; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; MALE; MEIOSIS; MITOSIS; MOLECULAR GENETICS; MUSCLE BIOPSY; NONDISJUNCTION; X CHROMOSOME;

ADULT; BLOTTING, SOUTHERN; CHILD; DYSTROPHIN; GENE DELETION; HUMANS; KLINEFELTER SYNDROME; MALE; MUSCULAR DYSTROPHIES;

EID: 0030861770     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(97)00032-6     Document Type: Article

References (10)

1. Monaco PA. Molecular human genetics and the Duchenne/Becker muscular dystrophy gene. In: Partridge T, editor. Molecular and Cell Biology of Muscular Dystrophy. London: Chapman and Hall, 1993.
2. Hoffman EP. Genotype/phenotype correlations in Duchenne/Becker dystrophy. In: Partridge T, editor. Molecular and Cell Biology of Muscular Dystrophy. London: Chapman and Hall, 1993.
3. Matthews PM, Benjamin D, van Bakdelel I et al. Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscular Disord 1995; 5: 209-220.
4. de la Chapelle A. Sex chromosome abnormalities. In: Emery AE, Rimoin DE, editors. Principles and Practice of Medical Genetics. Edinburgh: Churchill Livingstone, 1990: 273-299.
5. Nicholson LVB, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB. Heterogenity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol 1990; 80: 239-250.
6. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex D amplification. Nucleic Acids Res 1988; 16: 11141-11156.
7. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-517.
8. Nicholson LVB, Johnson MA, Bushby KMD et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathologic data. Part 2. Correlations within individual patients. J Med Genet 1993; 30: 737-744.
9. Suthers GK, Manson JI, Stern LM, Haan EA, Mulley JC. Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. J Med Genet 1989; 26: 251-254.
10. Ramesh V, Mountford R, Kingston HM, Kelsey A, Noronha MJ, Clarke MA. Occurrence of Duchenne dystrophy in Klinefelter's syndrome. Arch Dis Child 1993; 69: 453-454.