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H339

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

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

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

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