We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Current Classification of Canine Muscular Dystrophies and Identification of New Variants.
- Authors
Shelton, G. Diane; Minor, Katie M.; Friedenberg, Steven G.; Cullen, Jonah N.; Guo, Ling T.; Mickelson, James R.
- Abstract
The spectrum of canine muscular dystrophies has rapidly grown with the recent identification of several more affected breeds and associated mutations. Defects include those in genes and protein products associated with the sarcolemma (dystrophin deficient X-linked muscular dystrophy and sarcoglycan-deficient limb–girdle muscular dystrophy) and with the extracellular matrix (collagen 6, laminin α2, and α-dystroglycan-deficient congenital muscular dystrophies). With the increasing application of whole genome sequencing and whole exome sequencing, the clinical and pathological spectra associated with specific neuromuscular genetic defects are constantly evolving. In this report, we provide a brief overview of the current status of gene defects reported in canine muscular dystrophies. We also report the causative mutations for novel forms of X-linked muscular dystrophy in Brittany spaniels and in a French bulldog.
- Subjects
MUSCULAR dystrophy; LIMB-girdle muscular dystrophy; WHOLE genome sequencing; FACIOSCAPULOHUMERAL muscular dystrophy; EXTRACELLULAR matrix
- Publication
Genes, 2023, Vol 14, Issue 8, p1557
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes14081557