Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf.
A Dutch Improved Red and White cross-breed heifer calf was evaluated for a muscular disorder resulting in exercise induced muscle stiffness. Clinical findings included generalized exercise-induced muscle spasms with normal response to muscle percussion. Electromyography showed no myotonic discharges, thus ruling out myotonia. Whereas histological examination of muscle tissue was unremarkable, Ca(2+)-ATPase activity of sarcoplasmatic reticulum membranes (SERCA1) was markedly decreased compared to control animals. Mutation analysis revealed the presence of a missense mutation in the ATP2A1 gene encoding the SERCA1 protein (p.Arg559Cys). The present case presents similarities to human Brody's disease, but also to pseudomyotonia and congenital muscular dystonia previously described in different cattle breeds.
Grünberg
Walter
W
Department of Farm Animal Health, Utrecht University, Utrecht, The Netherlands. waltergruenberg@yahoo.com
Sacchetto
Roberta
R
Wijnberg
Inge
I
Neijenhuis
Kurt
K
Mascarello
Francesco
F
Damiani
Ernesto
E
Drögemüller
Cord
C
D000818:Animals; D002417:Cattle; D004252:DNA Mutational Analysis; D020386:Isaacs Syndrome / Q000235:genetics / Q000473:pathology / Q000662:veterinary; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D012519:Sarcoplasmic Reticulum / Q000235:genetics / Q000378:metabolism; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases