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Exercise Induced Metabolic Myopathy
Breed: German Hunting Terrier/ Jagdterrier
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
GTPs
General
Disease Name
Exercise Induced Metabolic Myopathy
OMIA
2140
Gene Name
ACADVL
Mutation
c.1728C>A
Mutation 2
g.32193689C>A
Mutation 3
p.Tyr576*
Test Type
Genetic Disease/Disorder
Details
Exercise induced weakness, muscle pain, and suspected muscle deterioration
Details 2
Lepori et al. (2018): Clinical signs included "exercise induced weakness, muscle pain, and suspected rhabdomyolysis". Affected dogs have elevated serum creatine kinase (CK) and alanine aminotransferase (ALT) activities. An acylcarnitine profile from blood revealed an elevated tetradecenoylcarnitine (C14:1) peak suggesting the diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD).
Published
2018, Lepori, V., Mühlhause, F., Sewell, A.C., Jagannathan, V., Janzen, N., Rosati, M., Maximiano Alves de Sousa, F.M., Tschopp, A., Schüpbach, G., Matiasek, K., Tipold, A., Leeb, T., Kornberg, M. : ACADVLGene in German Hunting Terrier Dogs with Exercise Induced Metabolic Myopathy. G3 (Bethesda) :, 2018. Pubmed reference: 29491033. DOI: 10.1534/g3.118.200084.
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
German Hunting Terrier
GTP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
ACADVL
Mutation
c.1728C>A
Mutation Comment
g.32193689C>A
Nature of test
mutation test
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
EIMM
Gene Name
ACADVL
Mutation
c.1728C>A
Mutation Comment
g.32193689C>A
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