Congenital Progressive Ovine Muscular Dystrophy in Western Australia

Dent, Alan; Rb, Richards; Nairn, M. E.

doi:10.1111/j.1751-0813.1979.tb00411.x

Cited by 15 publications

(11 citation statements)

References 1 publication

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“…In other muscles similar changes are present to a much lesser degree. Inheritance with a recessive autosomal trait has been proposed, but is not proven (28,62,63). Pietrain creeper syndrome.…”

Section: Congenital and Inherited Myopathiesmentioning

confidence: 99%

Spontaneous primary myopathies in domestic mammals: A review

1987

Veterinary Quarterly

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SUMMARY By reviewing the literature concerning primary myopathies in man and animals, a classification of spontaneous primary myopathies in domestic mammals is made. This classification is based on aetiological factors. Primary myopathies are divided into metabolic, immunologic, toxic, nutritional, congenital, inherited, and inflammatory myopathies. Muscular dystrophies, in accordance with the definition in human cases, are considered as a separate entity. In the description of the different muscle disorders the emphasis is on the structural changes and the pathogenesis. Clinical signs and diagnostic criteria are considered only briefly.

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Section: Congenital and Inherited Myopathiesmentioning

confidence: 99%

Spontaneous primary myopathies in domestic mammals: A review

1987

Veterinary Quarterly

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“…Ovine congenital progressive muscular dystrophy (OCPMD) was first described in a Merino sheep flock in Queensland, Australia in 1969 [1]. Further cases were subsequently characterized in Merino sheep in Western Australia in 1979 [2]. Although the clinical and pathological features of both flocks are highly similar, there is no known breeding connection between these flocks [2].…”

Section: Introductionmentioning

confidence: 99%

“…Further cases were subsequently characterized in Merino sheep in Western Australia in 1979 [2]. Although the clinical and pathological features of both flocks are highly similar, there is no known breeding connection between these flocks [2]. Herein, we will use the term OCPMD to describe the Western Australian flock.…”

Section: Introductionmentioning

confidence: 99%

“…The first signs of the disease are observed within 1 month after birth [3]. Many affected sheep develop a bloated, pot-bellied appearance at 9-12 months of age and some exhibit respiratory distress following mild exercise [2]. Most affected animals are either culled or die of other causes before 2 years of age [2].…”

Section: Introductionmentioning

confidence: 99%

“…Many affected sheep develop a bloated, pot-bellied appearance at 9-12 months of age and some exhibit respiratory distress following mild exercise [2]. Most affected animals are either culled or die of other causes before 2 years of age [2]. Affected sheep exhibited higher resting and post-exercise creatine kinase and lactate dehydrogenase levels [3].…”

Section: Introductionmentioning

confidence: 99%

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

Clayton

McNamara

Goullée

et al. 2020

acta neuropathol commun

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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-specific TNNT1 gene (KT218690 c.614 + 1delG). All affected sheep were homozygous for this variant. Examination of TNNT1 splicing by RT-PCR showed intron retention and premature termination, which disrupts the highly conserved 14 amino acid C-terminus. The variant did not reduce TNNT1 protein levels or affect its localization but impaired its ability to modulate muscle contraction in response to Ca 2+ levels. Identification of the causative variant in TNNT1 finally clarifies that the OCPMD sheep is in fact a large animal model of TNNT1 congenital myopathy. This model could now be used for testing molecular or gene therapies.

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Skeletal muscle pathology in ovine congenital progressive muscular dystrophy

Passmore²,

Dempsey³

1988

Acta Neuropathol

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Fiber-type proportions were determined in 12 skeletal muscles (peronaeus tertius, tibialis cranialis, tensor fascia lata, psoas major, extensor digitorum lateralis, tensor fascia antibrachii, vastus intermedius, soleus, anconaeus, and flexor digitorum superficialis of fore and hind limb) from infantile (20 weeks), juvenile (16 months) and adult (2.5 and 3.5 years) Merino sheep with ovine congenital progressive muscular dystrophy and in age-matched controls. Although confined to type I fibers, lesions were severe not only in type I fiber dominant muscles (vastus intermedius, soleus and anconaeus) but also in the type II dominant medial triceps brachii and in the superficial digital flexors which had approximately equal proportions of both fiber types. The frequency distribution curves of myofiber diameter in dystrophic anconaeus and superficial digital flexor of the fore limb altered as the disease progressed. In young sheep (20 weeks) type I fibers increased in size, then in juvenile and adult sheep the curves became flatter and broader and lost symmetry due to the presence of hypertrophic and atrophic fibers. The fiber diameter profiles were similar to those seen in Duchenne dystrophy in humans.

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Congenital Progressive Ovine Muscular Dystrophy in Western Australia

Cited by 15 publications

References 1 publication

Spontaneous primary myopathies in domestic mammals: A review

Spontaneous primary myopathies in domestic mammals: A review

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

Skeletal muscle pathology in ovine congenital progressive muscular dystrophy

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