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Immunohistochemical study of caveolin-3 in idiopathic hyperCKaemia

¹ Centre for Neuromuscular Diseases, University "G d’Annunzio", Chieti, Italy
² Neurological Institute, Catholic University, UILDM, Rome, Italy

Correspondence to:
Correspondence to:
Professor A Uncini, Clinica Neurologica, Ospedale Clinicizzato "SS Annunziata", Via dei Vestini I-66013 Chieti, Italy;
uncini@unich.it

Keywords: caveolin-3; hyeperCKaemia

The first 150 words of the full text of this article appear below.

With the increasing concern about malignant hyperthermia and with the inclusion of creatine kinase determination in the automated blood chemistry profile, performed as part of health screening, the number of subjects with raised serum creatine kinase (hyperCKaemia) without clinical signs of neuromuscular disease is continuously increasing. In 1980 Rowland et al coined the term "idiopathic hyperCKaemia" to describe patients with consistently increased serum creatine kinase who may complain of myalgia or tiredness but do not have weakness or other abnormalities on neurological examination, electromyography, and muscle biopsy.¹ Extensive ancillary investigations may lead to the diagnosis of a subclinical neuromuscular disorder in a variable percentage of subjects but in others hyperCKaemia remains unexplained even after complete studies.

Merlini et al² reported on an 18 year old man and his 49 year old mother with persistent hyperCKaemia, no muscle symptoms and signs, muscle caveolin-3 deficiency, and a novel mutation (P28L) in the . . . [Full text of this article]

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