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Marked hemiatrophy in carriers of Duchenne muscular dystrophy

Rajakulendran, Sanjeev
Kuntzer, Thierry
Dunand, Murielle
Yau, Shu C.
Ashton, Emma J.
Storey, Helen
McCauley, Joanna
Abbs, Stephen
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Published in Archives of Neurology. 2010, vol. 67, no. 4, p. 497-500
Abstract OBJECTIVE: To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutations in the dystrophin gene. Female patients with heterozygous mutations may be manifesting carriers. DESIGN: Case study. SETTING: Neurology clinic. PATIENTS: Two manifesting carriers of DMD. INTERVENTIONS: Clinical and radiologic examinations along with histologic and molecular investigations. RESULTS: Both patients had marked right-sided hemiatrophy on examination with radiologic evidence of muscle atrophy and fatty replacement on the affected side. In each case, histologic analysis revealed a reduction in dystrophin staining on the right side. Genetic analysis of the dystrophin gene revealed a tandem exonic duplication in patient 1 and a multiexonic deletion in patient 2 with no further point mutations identified on the other chromosome. CONCLUSIONS: Marked hemiatrophy can occur in DMD manifesting carriers. This is likely to result from a combination of skewed X-inactivation and somatic mosaicism.
Keywords AdultArm/pathology/physiopathologyDNA Mutational AnalysisDystrophin/geneticsExons/geneticsFemaleFunctional Laterality/physiologyGenetic Diseases, X-Linked/genetics/pathology/physiopathologyGenetic Predisposition to DiseaseGenetic TestingGenotype*HeterozygoteHumansLeg/pathology/physiopathologyMagnetic Resonance ImagingMiddle AgedMosaicismMuscle, Skeletal/*pathology/physiopathologyMuscular Atrophy/*genetics/*pathology/physiopathologyMuscular Dystrophy, Duchenne/*geneticsMutation/geneticsX Chromosome Inactivation/genetics
PMID: 20385919
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Other version: http://archneur.ama-assn.org/cgi/reprint/67/4/497.pdf
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RAJAKULENDRAN, Sanjeev et al. Marked hemiatrophy in carriers of Duchenne muscular dystrophy. In: Archives of Neurology, 2010, vol. 67, n° 4, p. 497-500. doi: 10.1001/archneurol.2010.58 https://archive-ouverte.unige.ch/unige:21243

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Deposited on : 2012-05-23

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