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Arthrogryposis multiplex congenita, CHRNB1-related

Agerholm et al. (2016): "a single base deletion in the first exon of CHRNB1 (c.55delG) introducing a premature stop codon (p.Ala19Profs47*) in the second exon, truncating 96 % of the protein."

OMIA ID: 2022Inheritance: Agerholm et al. (2016) provided pedigree evidence consistent with autosomal r...Characterised: YesYear: 2016
Genes:None linked
Variants:Arthrogryposis multiplex congenita, CHRNB1-related
Breeds:Red Dane (Cattle)