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Gangliosidosis (GM2, GM2A) is caused by a mutation in the GM2A gene.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | A1 |
| Mutation | c.516_519delGGTC |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GM2, GM2A |
General information
Gangliosidosis (GM2, GM2A) is caused by a mutation in the GM2A gene. This leads to progressive accumulation of GM2 ganglioside in neuronal lysosomes and subsequent fatal deterioration of central nervous system function. Also known as GM2 gangliosidosis type AB.
Clinical features
Central nervous symptoms such as locomotory incoordination and exaggerated startle response to sharp sounds. Symptoms generally starting to appear at approximately 14 months of age.
Additional information
References
Pubmed ID: 16200419
Year published: 2005
Omia ID: 1427
Omia variant ID: