Abstract | BACKGROUND: HYPOTHESIS: ANIMALS: Two CCR exhibiting episodic exercise intolerance, collapse, and lethargy, and related dogs were studied. METHODS: Structure and amount of glycogen isolated from tissue biopsy specimens was determined by enzymatic digestion, and activities of enzymes of glycogen metabolism were measured. The 33 AGL coding exons and flanking splice sites of an affected dog were amplified by polymerase chain reaction and sequenced. RESULTS: Debranching enzyme activity was undetectable in liver and skeletal muscle of affected dogs, and accumulated glycogen had absent or short outer chains of alpha1, 4-linked glucose. A single adenosine (A) deletion in AGL exon 32 of affected dog genomic DNA predicted a frame-shift and truncation of the protein product by 126 amino acid residues. The mutation was homozygous in affected dogs and heterozygous in both parents. In addition, the deletion mutation was heterozygous in 16 or not detected at all in 31 related but clinically normal CCR. CONCLUSIONS AND CLINICAL IMPORTANCE:
GSD IIIa in CCR is an autosomal recessive trait caused by mutation of AGL. A DNA sequence-based carrier test was developed, and carriers were identified in the United States, New Zealand, Australia, and Finland.
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Authors | Brittany L Gregory, G Diane Shelton, Deeksha S Bali, Yuan-Tsong Chen, John C Fyfe |
Journal | Journal of veterinary internal medicine
(J Vet Intern Med)
2007 Jan-Feb
Vol. 21
Issue 1
Pg. 40-6
ISSN: 0891-6640 [Print] United States |
PMID | 17338148
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Animals
- Dog Diseases
(diagnosis, genetics, pathology)
- Dogs
- Female
- Genetic Predisposition to Disease
- Glycogen Storage Disease Type III
(diagnosis, genetics, pathology, veterinary)
- Liver
(pathology)
- Male
- Muscle, Skeletal
(pathology)
- Pedigree
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