In the words of Charlier et al. (2008), "All calves with CMD have episodes of generalized muscle contractures, but careful clinical examination suggested two distinct phenotypes (CMD1 and CMD2)."
OMIA ID:1450Inheritance: 5Characterised: YesYear: 2008
Reith et al. (2024): "Whole-genome sequencing (WGS) of 7 blind cattle and 9 unaffected relatives revealed a 1-bp frameshift deletion in ceroid lipofuscinosis neuronal 3 (CLN3; chr25 g.26043843del) for which the blind cattle were homozygous and their parents heterozygous. The identified variant in exon 16 of 17 is predicted to truncate the encoded protein (p. Pro369Argfs*8) ... ."
OMIA ID:2432Inheritance: Reith et al. (2024): "All blind [Hereford] cattle shared a common ancestor th...Characterised: YesYear: 2024
Recognising the close resemblance of this disorder in Chianina cattle to Brody disease in humans, Drögemüller et al. (2008) illustrated the power of the candidate-gene approach by showing that this disorder in Chianina cattle is due to a missense mutation in the bovine version of the "Brody gene" - ATP2A1. Interestingly, another mutation in this same gene causes a far more severe set of clinical signs: congenital muscular dystonia 1 (OMIA 0014...
OMIA ID:1464Inheritance: 5Characterised: YesYear: 2008
