An unusual case of Duchenne muscular dystrophy.
A 10-year-old boy with Duchenne muscular dystrophy (DMD), with quite unusual clinical data, is presented. He was unable to walk until age 6, walked only for 9 months and then became wheel-chair bound. No dystrophin was present on muscle biopsy sections and a large deletion was found in the dystrophin gene. The deletion encompassed the central high frequency deletion region of the gene. Early developmental milestones may be delayed in DMD, but patients usually start to walk around 2-3 years of age. A delay of the extent in this case is very unusual.
Topaloğlu
H
H
Department of Pediatric Neurology, Hacettepe University, Children's Hospital, Ankara, Turkey.
Dinçer
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P
Göğüş
S
S
Ayter
S
S
Topçu
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M
D000911:Antibodies, Monoclonal; D001706:Biopsy; D002648:Child; D002657:Child Development; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000503:physiopathology*; D016133:Polymerase Chain Reaction; D016138:Walking
D000911:Antibodies, Monoclonal; D016189:Dystrophin