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Nemaline Myopathy


Relevance Rating: Unknown, not evaluated or no evidence for test in this breed


Disease Name
Nemaline Myopathy
g.52734272 C>A
Test Type
Genetic Disease/Disorder
Nemaline Myopathy causes extreme muscle atrophy and weakness, tremors, and exercise intolerance. Age of symptoms onset from 8 weeks of age. Most dogs are euthanized before one year of age due to poor quality of life.
Details 2
Affected dogs could independently ambulate, had generalized atrophy, and the myopathy was relatively non-progressive... Atrophy of the cervical and dorsal thoracic limb muscles was noted with bilateral hypertrophy of the triceps muscles. Serum creatine kinase (CK) activities were mildly elevated. Electromyography (EMG) revealed spontaneous electrical activity, consisting mainly of fibrillation potentials, within the proximal appendicular muscles of the thoracic limbs and the cervical paraspinal musculature. Motor nerve conduction velocity (MNCV) testing showed a mild decrease in the latency of the tibial and ulnar nerves. Respiratory difficulties were not present. (Evans et al, 2016)
Evans, Jacquelyn M., Melissa L. Cox, Jonathan Huska, Frank Li, Luis Gaitero, Ling T. Guo, Margaret L. Casal, Henk L. Granzier, G. Diane Shelton, and Leigh Anne Clark. "Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy." Mammalian genome: official journal of the International Mammalian Genome Society 27, no. 9-10 (2016): 495-502.
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