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Tytuł pozycji:

Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency.

Tytuł :
Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency.
Autorzy :
Fortin, Jessica S.
Hakim, Chady H.
Korte, Scott
Yang, N. Nora
Fitzgerald, Scott D.
Johnson, Gayle C.
Smith, Bruce F.
Duan, Dongsheng
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Temat :
X chromosome
IMPLANTABLE cardioverter-defibrillators
DUCHENNE muscular dystrophy
Źródło :
Veterinary Medicine & Science; May2021, Vol. 7 Issue 3, p654-659, 6p
Przedsiębiorstwo/ jednostka :
UNIVERSITY of Missouri
Czasopismo naukowe
The University of Missouri (MU) has established a colony of dystrophin‐deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the understanding of the genetic and molecular basis of the variable phenotype; thus to facilitate discovery of an effective therapeutic strategy. Herein we report the phenotype and genotype of a normal‐appearing 10‐month‐old colony female that died suddenly. At necropsy examination, there were reduced skeletal and laryngeal muscle volume and mild dilatation of the oesophagus. Microscopic findings consisted of extensive degeneration and regeneration of the axial skeletal, tongue, oesophageal, and laryngeal muscles that were characterized by considerable central nucleation, individual fibre mineralization and interstitial fibrosis. The myocardial findings were limited to infiltration of adipose cells in the interstitium. The female dog was a compound heterozygote with one X chromosome carrying a point mutation in intron 6 of the dystrophin gene and the other X chromosome carrying a repetitive element insertion in intron 13 of the dystrophin gene. Although the direct cause of death was uncertain, it might likely be due to sudden cardiac death as has been seen in Duchenne muscular dystrophy patients. This case demonstrated dystrophinopathy in female dogs that have no ameliorating normal X chromosome. [ABSTRACT FROM AUTHOR]
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