X-chromosomal Myotubuläre Myopathie (XL-MTM) - Labrador Retriever ISAG hyperextension of the limbs

hyperextension of the limbs

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

Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder belonging in a group of congenital blistering skin diseases

Da das TYRP1-Gen mit der Eumelaninproduktion verbunden ist

X-chromosomal Myotubuläre Myopathie (XL-MTM) - Labrador Retriever ISAG hyperextension of the limbsMyotubular 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.