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gefolgt von spät einsetzenden Krampfanfällen und unter natürlichen Bedingungen einem frühen Tod im Alter von etwa 3-4 Monaten
Neuroaxonal dystrophy (NAD) is a slowly progressive neurodegenerative disorder with an autosomal recessive inheritance
🧬 ISAG 2020 DNA-Profile für beide Hunde
Sie wird durch anatomische Anomalien im Gehirn beschrieben - ein kleineres oder nicht entwickeltes Kleinhirn
The disease is caused by mutation G563T in SLC2A9 gene that codes for uric acid transport protein expressed in kidneys
X-chromosomal Myotubuläre Myopathie (XL-MTM) - Labrador Retriever ISAG gefolgt von spät einsetzenden KrampfanfällenMyotubular myopathy is a X linked recessive disorder. Affected infant male puppies show signs of facial, axial and proximal neuromuscular weakness with tetraparesis, difficulty holding the head up and a dropped jaw, including hypotonia and areflexia leading to respiratory insufficiency and death within 2 weeks. The symptoms usually occur postnatal and progress very quickly. The affected male puppies have to be euthanised due to progressive symptoms.
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