title: Familial idiopathic hyper-CK-emia: an underrecognized condition.
abstract: Persistent elevation of serum creatine kinase (CK) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia (IH). IH has been reported in rare families and was recently ascribed to caveolin-3 gene mutations. We retrospectively found that IH was familial in 13 of 28 subjects in whom serum CK was measured in relatives. These 13 families had a total of 41 subjects with IH, including six over 60 years of age. In eight families there was male-to-male transmission and a higher prevalence of males with hyperCKemia. Muscle biopsy in one member of all families was normal or showed minimal, nonspecific changes. Morphometric examination disclosed different patterns of changes in fiber size and distribution. Caveolin-3 expression was normal and in five families molecular genetics excluded caveolin-3 gene mutations. Our findings suggest that IH is familial in 46% of cases. Familial IH is a benign genetically heterogeneous condition that is autosomal-dominant in at least 60% of cases, with a higher penetrance in men.
authors.affiliation: Neuromuscular Diseases Unit, Center for Excellence on Aging, G. d'Annunzio University Foundation, Via Colle dell'Ara, I-66013 Chieti, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Capasso
authors.forename: Maria Vittoria
authors.initials: MV
authors.lastname: De Angelis
authors.forename: Antonio
authors.initials: A
authors.lastname: Di Muzio
authors.forename: Oronzo
authors.initials: O
authors.lastname: Scarciolla
authors.forename: Marta
authors.initials: M
authors.lastname: Pace
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.forename: Antonino
authors.initials: A
authors.lastname: Uncini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D051244:Caveolin 3 / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood* / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D019683:Penetrance; D015995:Prevalence; D017678:Sex Distribution
chemical_list: D051244:Caveolin 3; D003402:Creatine Kinase