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Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion

Abstract : 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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Contributor : Isabelle Richard Connect in order to contact the contributor
Submitted on : Wednesday, November 17, 2021 - 6:20:45 PM
Last modification on : Tuesday, January 11, 2022 - 10:32:04 AM
Long-term archiving on: : Friday, February 18, 2022 - 8:54:00 PM


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Marco Spinazzi, Jerome Poupiot, Julien Cassereau, France Leturcq, Laurent Brunereau, et al.. Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion. Neuromuscular Disorders, Elsevier, 2021, 31 (5), pp.450-455. ⟨10.1016/j.nmd.2021.02.012⟩. ⟨hal-03358253v1⟩



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