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Neuroaxonal Dystrophy (NAD) is a degenerative neural disease that causes nerve damage, loss of motor function and paralysis.

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Specifiche

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

Neuroaxonal Dystrophy (NAD) is a degenerative neural disease that causes nerve damage, loss of motor function and paralysis. This lethal variant of the disease, known as Fetal-Onset Neuroaxonal Dystrophy (FNAD), was first observed in a Schnauzer and Beagle cross. It is caused by a recessive mutation to the gene MFN2.

Caratteristiche cliniche

Affected puppies are born with immobilized limb joints and with scoliosis of the spine. They are unable to breathe independently, and are either stillborn or die shortly after birth.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 20653033

Omia ID: 2153

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