The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in females with X-chromosome abnormalities such as the Turner syndrome. A girl with full expression of DMD due to a 46 XY karyotype is reported, and other clinical conditions in which expression of the DMD gene occurs in females are reviewed.
Get full access to this article
View all access options for this article.
References
1.
Duchenne Gba.Recherches sur la paralysie musculaire pseudohypertrophique ou paralysie myo-scerosique. Arch Gen Med (6 ser) 1868 ; 11:552-88.
2.
Emery Aeh.Duchenne muscular dystrophy: genetic aspects, carrier detection and antenatal diagnosis. Br Med Bull1980;36:117-22.
3.
Emery Aeh, Walton JNThe genetics of muscular dystrophy. Prog Med Genet1967;5:116-45.
4.
Kloepfer HW, Talley C.Autosomal recessive inheritance of Duchenne type muscular dystrophy. Acta GenetStatist Med1957;7:314-8.
5.
Jackson CE, Carey JHProgressive muscular dystrophy: autosomal recessive type. Pediatrics1961;28:77-84.
6.
Skyring A., McKusick VAClinical, genetic and electrocardiographic studies in childhood muscular dystrophy. AmJ Med Sci1961;242:534-47.
7.
Walton JNThe inheritance of muscular dystrophy. Acta Genet1957;7:318-20.
8.
Berg BO, Conte F.Duchenne muscular dystrophy in a female with a structurally abnormal X-chromosome . Neurology1974;24:356.
9.
Zata M., Vianna-Morgante AM, Camposa P., et al. Translocation (X:6) in a female with Duchenne muscular dystrophy: Implications for the localization of the DMD locus. J Med Genet1981;18:442-7.
10.
Emanuel BS, Zackai EH, Tucker SHFurther evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X:9 translocation in a female with DMD. J Med Genet1983;20:461-3.
11.
Verellen-Dumoulin CH, Freund M., De Meyer R, et al. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet1984 ;67:115-9.
12.
Dubowitz V.The muscular dystrophies. In: Muscle Disorders in Childhood . London: WB Saunders, 1978, p 39.
Nielsen LB, Nielsen IMTurner's syndrome and Duchenne muscular dystrophy in a girl with an X:autosome translocation. Ann Genet1984;27:173-7.
15.
Worton RG, Duff C., Sylvester JE, et al. Duchenne muscular dystrophy involving translocation of the DMD gene next to ribosomal RNA genes. Science1984;224:1447-9.
16.
Ferrier P., Bamatter F., Klein D.Muscular dystrophy (Duchenne) in a girl with Turner's syndrome. J Med Genet1965;2:38-46.
17.
Jalbert P., Mouriquand C., Beaudoing A., et al. Myopathic progressive de type Duchenne et mosaique X0/XX/ XXX: considerations sur la genese de las fibre musculaire striee. Ann Genet1966;9:104-7.
