Myotonia congenita in a Labrador Retriever with truncated CLCN1

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http://hdl.handle.net/10138/251206

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Quitt , P R , Hytönen , M K , Matiasek , K , Rosati , M , Fischer , A & Lohi , H 2018 , ' Myotonia congenita in a Labrador Retriever with truncated CLCN1 ' , Neuromuscular Disorders , vol. 28 , no. 7 , pp. 597-605 . https://doi.org/10.1016/j.nmd.2018.05.002

Title: Myotonia congenita in a Labrador Retriever with truncated CLCN1
Author: Quitt, Pia R.; Hytönen, Marjo K.; Matiasek, Kaspar; Rosati, Marco; Fischer, Andrea; Lohi, Hannes
Contributor: University of Helsinki, Research Programs Unit
University of Helsinki, Research Programme for Molecular Neurology
Date: 2018-07
Language: eng
Number of pages: 9
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
URI: http://hdl.handle.net/10138/251206
Abstract: 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 congenita was diagnosed based on clinical signs, abundant myotonic discharges on electromyography and exclusion of structural myopathies on histology. Whole exome sequencing revealed a case-specific homozygous variant in CLCN1, c.2275A > T resulting in a premature stop codon, p.R759X. The CLCN1 variant was absent from the genomes of 127 Labrador Retriever controls and 474 control dogs from other breeds. This study expands the spectrum of identified canine CLCN1 mutations and the list of affected breeds in myotonia congenita and highlights the potential value of dogs as translational large animal models of human genetic diseases. (C) 2018 The Authors. Published by Elsevier B.V.
Subject: 413 Veterinary science
1184 Genetics, developmental biology, physiology
CLCN1
LABRADOR RETRIEVER
MYOTONIA CONGENITA
DUCHENNE MUSCULAR-DYSTR OPHY
MUSCLE CHLORIDE CHANNEL
NONDYSTROPHIC MYOTONIAS
HEREDITARY MYOTONIA
MINIATURE SCHNAUZER
MYOTUBULAR MYOPATHY
GENE-THERAPY
DOGS
MUTATION
CANINE
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