Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: Confirmation by PCR-RFLP testing |
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Authors: | AC Johnstone KD McSporran JE Kenny IL Anderson GR MacPherson RD Jolly |
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Affiliation: | 1. Institute for Veterinary, Animal and Biomedical Sciences , Massey University , Private Bag 11222, Palmerston North, New Zealand;2. Gribbles Veterinary Pathology Auckland , PO Box 41, Auckland, New Zealand;3. Blood Typing and Research Centre , Massey University , Palmerston North, New Zealand;4. PO Box 4500, Kamo, Whangarei, New Zealand E-mail: A.C.Johnstone@massey.ac.nz |
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Abstract: | AIM: To describe a disease of muscle in Charolais calves and confirm the putative diagnosis of inherited myophosphorylase deficiency. METHODS: Variously stained paraffin sections of muscle prepared from affected calves were used to describe the lesions. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test was developed and applied to affected calves, their sires, dams and other individuals. RESULTS: The lesions were those of rhabdomyolysis of skeletal muscles and sub-sarcolemmal spaces in normal fibres. The PCR-RFLP test confirmed the expected mutation for phosphorylase deficiency of Charolais cattle in two affected calves. In addition, sires, dams and other closely-related individuals of four affected calves tested as heterozygous for the mutation. Other apparently unrelated animals also tested as heterozygous. CONCLUSIONS: The diagnosis of myophosphorylase deficiency was confirmed. The PCR-RFLP test is suitable for use in controlling this recessively-inherited disorder as it can diagnose heterozygous individuals that are otherwise clinically normal. |
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Keywords: | Myophosphorylase deficiency glycogen cattle rhabdomyolysis exercise intolerance polymerase chain reaction-restriction fragment length polymorphism |
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