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Nemaline Myopathy

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Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

NEB

Variant Detected:

C>A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Evans, J. M., Cox, M. L., Huska, J., Li, F., Gaitero, L., Guo, L. T., … Clark, L. A. (2016). Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. Mammalian Genome, 27(9–10), 495–502.

Associated Breed(s):

American Bulldog , Unknown,

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