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Article

Myotonia congenita in a Labrador Retriever with truncated CLCN1.

Neuromuscular disorders : NMD - 1 Jul 2018

Quitt Pia R, Hytönen Marjo K, Matiasek Kaspar, Rosati Marco, Fischer Andrea, Lohi Hannes

Abstract excerpt

An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity. On occasions, initiation of sudden movements would result in collapse with rigidity of the trunk and stiff extended limbs for several seconds. Other clinical signs were excitement-induced upper airway stridor and oropharyngeal dysphagia. Myotonia...

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Source

Identifiers

PMID: 29934119
DOI: 10.1016/j.nmd.2018.05.002

Genes

CLCN1

Variants

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