Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Détails

Ressource 1Télécharger: BIB_312A8E4A77EA.P001.pdf (450.91 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_312A8E4A77EA
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
Périodique
Archives of Neurology
Auteur(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
Statut éditorial
Publié
Date de publication
2010
Peer-reviewed
Oui
Volume
67
Numéro
4
Pages
497-500
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
27/04/2010 15:17
Dernière modification de la notice
20/08/2019 13:16
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