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Typical clinical findings include multifocal areas of retinal elevation which progress to multifocal areas of outer retinal atrophy
In the chronic type
Affected infant male puppies show signs of facial
Mutation: CDH23 gene
It allows full expression of colours defined by A-Locus
X-chromosomal Myotubuläre Myopathie (XL-MTM) - Rottweiler Rassebestimmung Typical clinical findings include multifocalMyotubular 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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