57,48 47,50 hors TVA

H969

Ullrich-like Muscular Dystrophy (UCMD or MD) is a severe muscle disorder occurring in the Landseer.

10 working days

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Caractéristiques

Breeds

Gene

Chromosome

31

Mutation

c.289G>T

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

UCMD; MD

Informations générales

Ullrich-like Muscular Dystrophy (UCMD or MD) is a severe muscle disorder occurring in the Landseer. The disease leads to progressive muscle weakness and is likely to lead to death or require euthanasia within the first year of life. It is caused by a recessive mutation to the gene COL6A1.

Caractéristiques cliniques

Affected puppies start suffering from severe progressive muscle atrophy, with weak muscles and stiff joints, within several weeks of life. They are reluctant to move, and they tend to sleep more than littermates. Reflexes and mental alertness remain normal. Further symptoms can include difficulty swallowing and breathing, as well as an elevated body temperature. Euthanasia due to poor quality of life is likely to be necessary within the first year.

Additional Information

Références

Pubmed ID: 26438297

Year published: 2015

Omia ID: 1967

Omia variant ID: 340

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