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H959

Polyneuropathy is the name used to refer to a broad category of neuromuscular diseases that cause muscle weakness and loss of sensation.

Working days 10

Specifiche

Breeds

,

Gene

Organ

specimen

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

Chromosome

Year Published

Informazioni generali

Polyneuropathy is the name used to refer to a broad category of neuromuscular diseases that cause muscle weakness and loss of sensation. This particular variant of the disorder, also known as Charcot-Marie-Tooth (CMT) type 4B2, is caused by a recessive mutation to the gene SBF2. It has been observed in the Miniature Schnauzer.

Caratteristiche cliniche

Affected dogs present within the first few years of life with symptoms such as exercise intolerance, difficulty breathing, a hoarse voice, vomiting and aspiration pneumonia (lung infections caused by inhaling food or liquid).

Informazioni aggiuntive

Riferimenti

Pubmed ID: 31772832

Omia ID: 2284

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