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Charcot-Marie-Tooth (CMT) type 4B2 is part of a a broad category of neuromuscular diseases called Demyelinating polyneuropathy (DP) and causes muscle weakness and loss of sensation.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 21 |
| Mutation | c.2363+1G>T |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
Información específica de la prueba
Charcot-Marie-Tooth (CMT) type 4B2 is part of a a broad category of neuromuscular diseases called Demyelinating polyneuropathy (DP) and causes muscle weakness and loss of sensation. CMT is caused by a recessive mutation to the SET binding factor 2 gene (SBF2, also known as MTMR13 gene). It has been observed in the Miniature Schnauzer.
Características clínicas
Los perros afectados presentan en los primeros años de vida síntomas como intolerancia al ejercicio, dificultad para respirar, voz ronca, vómitos y neumonía por aspiración (infecciones pulmonares causadas por la inhalación de alimentos o líquidos).
Información adicional
Referencias
Pubmed ID: 31772832
Year published: 2019
Omia ID: 2284
Omia variant ID: 1233