Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.

ABSTRACT: Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia in the 1960s and 1970s. The most prominent feature of the disease is a distinctive gait with stiffness of the hind limbs that can be seen as early as 3 weeks after birth. The disease is progressive. Histopathological examination had revealed dystrophic changes specifically in type I (slow) myofibres, while electron microscopy had demonstrated abundant nemaline bodies. Therefore, it was never certain whether the disease was a dystrophy or a congenital myopathy with dystrophic features. In this study, we performed whole genome sequencing of OCPMD sheep and identified a single base deletion at the splice donor site (+ 1) of intron 13 in the type I myofibre-spe

SUBMITTER: Clayton JS 

PROVIDER: S-EPMC7441672 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature