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Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterised by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ).
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Specifications
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
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Chromosome | |
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General information
Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterised by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine, and causative mutations have only been identified in Old Danish Pointer Dogs and Brahman cattle to date.
Clinical features
Neurological examination was consistent with a generalized neuromuscular disease with marked short-strided tetraparesis that worsened with exercise. Postural reactions were preserved with the exception of hopping which was diminished in all limbs when the puppies were made to bear full weight. Spinal reflexes including the patellar, cranial tibial, and flexor withdrawals were reduced in all limbs.
Additional information
References
Pubmed ID: 25166616
Omia ID: 1928