Authors: E. Seemanová; P. Hedvičáková Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky UK 2. LF, Praha vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2007; 62 (4): 234-238. Category: The current Case
Duchenne muscular dystrophy is a gonosomal recessive progressive disorder with the occurrence 1:3000. The clinical picture in boys-hemizygotes is very well known as the commonest myopathy. Less known is the fact that mild clinical features can occur in 10–20% of heterozygote carriers due to uneven lyonisation of the X chromosome. Authors refer the case of an isolated occurrence of Duchenne muscular dystrophy in a girl, where diagnosis could be confirmed by the detection of a mosaic disturbance of dystrophin and a deletion in Dys-gene on Xp21.
Key words: Duchenne muscular dystrophy, X linked inheritance, manifestation in a carrier girl, unequal lyonization
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