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Sarcoglycan Deficient Muscular Dystrophy (SDMD) - SINGLE ASSAY TEST

$75.00 (RRP)

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Test Overview:

A muscular dystrophy with variable symptoms. Symptoms include an intolerance to exercise showing stiff gait & dysphagia. Usually seen around 6 months of age.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

SGCA

Variant Detected:

chr 9 c.G224A W75*

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):

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D. Mickelson JR, Minor KM, Guo LT, Friedenberg SG, Cullen JN, Ciavarella A, Hambrook LE, Brenner KM, Helmond SE, Marks SL, Shelton GD. Skelet Muscle. 2021 Jan 7;11(1):2. doi: 10.1186/s13395-020-00257-y.

Associated Breed(s):

Dachshund , Dachshund Short Hair, Dachshund Standard Long Hair, Dachshund Standard Smooth Hair, Dachshund Standard Wire Hair, Dachshund Wire Hair, Miniature Dachshund, Miniature Dachshund Long Hair, Miniature Dachshund Short Hair, Miniature Dachshund Smooth Hair, Miniature Dachshund Wire Hair,
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