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Spinazzi, Marco; Poupiot, Jerome; Cassereau, Julien; Leturcq, France; Brunereau, Laurent; Malfatti, Edoardo; Richard, Isabelle; Letournel, Franck
Neuromuscular disorders : NMD, 20/May , Volume: 31, Issue: 5Journal Article
•Isolated camptocormia in a heterozygous carrier of the 759_761 CAPN3 deletion.•759_761 CAPN3 deletion causes loss of a single lysine in CAPN3 catalytic domain.•Lys254del CAPN3 abolishes both autolytic and proteolytic CAPN3 activity.•Consider dominant calpainopathy in the differential diagnosis of late camptocormia. Camptocormia is defined by a pathological involuntary flexion of the thoracic and lumbar spine that is fully reducible in the supine position. Although originally described as a manifestation of conversion disorder, it is more commonly caused by a wide range of neurological diseases, in particular movement and neuromuscular disorders. We describe here a rare case of late onset camptocormia caused by autosomal dominant calpainopathy due to a heterozygous in-frame deletion in CAPN3 leading to loss of a single lysin amino acid in the catalytic domain of calpain-3. Creatine kinase levels, electromyography, and thigh muscle MRI were normal. Muscle biopsy did not show lobulated fibers and calpain-3 protein expression was not decreased, but in vitro functional assays showed impaired proteolytic function of. Lys254del CAPN3. Autosomal dominant calpainopathy should be considered in the differential diagnosis of late onset camptocormia and unexplained paravertebral myopathies even in presence of normal creatine kinase levels, and in absence of lobulated fibers, of decreased calpain-3 protein expression, and of muscle limb involvement.
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