Donate
Nemaline Myopathy
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Nemaline Myopathy
OMIA
2137
Gene Name
NEB
Mutation
g.52734272 C>A
Test Type
Genetic Disease/Disorder
Details
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)
Published
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.
Body/System/Process
Muscular
OMIA Url
Inheritance
AR
