1. Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location
- Author
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Rasic Milic V., Vojinovic D., Pesovic J., Mijalkovic G., Lukic V., Mladenovic J., Kosac A., Novakovic I., Maksimovic N., Romac S., Todorovic S., and Pavicevic Savic D.
- Subjects
duchenne muscular dystrophy (dmd) ,dystrophin isoform ,intellectual impairment ,Genetics ,QH426-470 - Abstract
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy during childhood. Mutations in dystrophin (DMD) gene are also recognized as a cause of cognitive impairment. We aimed to determine the association between intelligence level and mutation location in DMD genes in Serbian patients with DMD. Forty-one male patients with DMD, aged 3 to 16 years, were recruited at the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia. All patients had defined DMD gene deletions or duplications [multiplex ligation- dependent probe amplification (MLPA), polymerase chain reaction (PCR)] and cognitive status assessment (Wechsler Intelligence Scale for Children, Brunet-Lezine scale, Vineland-Doll scale). In 37 patients with an estimated full scale intelligence quotient (FSIQ), six (16.22%) had borderline intelligence (70
- Published
- 2014
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