Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

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State: Public
Version: Final published version
Serval ID
serval:BIB_312A8E4A77EA
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
Journal
Archives of Neurology
Author(s)
Rajakulendran S., Kuntzer T., Dunand M., Yau S.C., Ashton E.J., Storey H., McCauley J., Abbs S., Thonney F., Leturcq F., Lobrinus J.A., Yousry T., Farmer S., Holton J.L., Hanna M.G.
ISSN
1538-3687 (Electronic)
ISSN-L
0003-9942
Publication state
Published
Issued date
2010
Peer-reviewed
Oui
Volume
67
Number
4
Pages
497-500
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
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
Adult, Arm/pathology, Arm/physiopathology, DNA Mutational Analysis, Dystrophin/genetics, Exons/genetics, Female, Functional Laterality/physiology, Genetic Diseases, X-Linked/genetics, Genetic Diseases, X-Linked/pathology, Genetic Predisposition to Disease, Genetic Testing, Genotype, Heterozygote, Humans, Leg/pathology, Leg/physiopathology, Magnetic Resonance Imaging, Middle Aged, Mosaicism, Muscle, Skeletal/pathology, Muscle, Skeletal/physiopathology, Muscular Atrophy/genetics, Muscular Atrophy/pathology, Muscular Dystrophy, Duchenne/genetics, Mutation/genetics, X Chromosome Inactivation/genetics
Pubmed
Web of science
Create date
27/04/2010 15:17
Last modification date
20/08/2019 13:16
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