Journal article

Publication year: 2012

Pages: 256-258

Journal: Klinische Pädiatrie

Volume number: 224

Issue number: 4

ISSN: 0300-8630

DOI Link: https://doi.org/10.1055/s-0032-1304626

Publisher: Georg Thieme Verlag

Abstract: 

Background: X-linked recessive diseases affect males, whereas female carriers are generally asymptomatic.

Casereport: We report on a 4-year-old girl who presented with a classical phenotype of Duchenne Muscular Dystrophy (DMD), a severe X-linked recessive type of muscular dystrophy affecting boys in early childhood.

Results: A thorough diagnostic work-up revealed that this resulted from a heterozygous out-of frame deletion in the DMD-gene in combination with an X-inactivation ratio of <10:90 in blood leukocytes and muscle.

Conclusion: The case exemplifies that a skewed X-inactivation pattern has to be taken into account as mechanism causing clinical symptoms in female carriers of X-linked recessive disorders

Harvard Citation style: Schaenzer, A., Rau, I., Kress, W., Koehler, A., Neubauer, B. and Hahn, A. (2012) Duchenne Muscular Dystrophy in a 4-Year-Old Girl due to Heterozygous Frame Shift Deletion of the Dystrophin Gene and Skewed X-Inactivation, Klinische Pädiatrie, 224(4), pp. 256-258. https://doi.org/10.1055/s-0032-1304626

APA Citation style: Schaenzer, A., Rau, I., Kress, W., Koehler, A., Neubauer, B., & Hahn, A. (2012). Duchenne Muscular Dystrophy in a 4-Year-Old Girl due to Heterozygous Frame Shift Deletion of the Dystrophin Gene and Skewed X-Inactivation. Klinische Pädiatrie. 224(4), 256-258. https://doi.org/10.1055/s-0032-1304626