Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Familial idiopathic hyper-CK-emia: an underrecognized condition.

Margherita Capasso1, Maria Vittoria De Angelis, Antonio Di Muzio

  • 1Neuromuscular Diseases Unit, Center for Excellence on Aging, G. d'Annunzio University Foundation, Via Colle dell'Ara, I-66013 Chieti, Italy.

Muscle & Nerve
|February 28, 2006
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Headache in mitochondrial diseases: From migraine to stroke-like episodes.

Headache·2026
Same author

Beyond motor neurons: peripheral TDP-43 pathology in skeletal muscle and intramuscular nerves in amyotrophic lateral sclerosis.

Brain communications·2026
Same author

FcRn antagonist and C5 complement inhibitor as early rescue strategies in severe Myasthenia Gravis: a two-case report.

Frontiers in immunology·2026
Same author

Glycogenin-1 deficiency: a case report and review of the literature.

Frontiers in genetics·2026
Same author

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report.

BMC neurology·2026
Same author

Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).

European journal of neurology·2026

Idiopathic hyperCKemia (IH) is often familial, affecting 46% of cases studied. This benign condition shows autosomal-dominant inheritance in most families, with higher prevalence in males.

Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Persistent high serum creatine kinase (CK) with normal exams is termed idiopathic hyperCKemia (IH).
  • Previous research suggested caveolin-3 gene mutations as a cause of familial IH.
  • The genetic basis and inheritance patterns of IH require further elucidation.

Purpose of the Study:

  • To investigate the familial occurrence and inheritance patterns of idiopathic hyperCKemia.
  • To explore the genetic heterogeneity of familial IH beyond caveolin-3 mutations.
  • To characterize the clinical and pathological features of familial IH.

Main Methods:

  • Retrospective analysis of serum CK levels in relatives of affected individuals.
  • Clinical examination, muscle biopsy, and morphometric analysis.

Related Experiment Videos

  • Molecular genetic testing for caveolin-3 mutations and assessment of caveolin-3 expression.

    • Main Results:

    • IH was found to be familial in 46% of cases (13 of 28 subjects).
    • Forty-one subjects across 13 families had IH, with six over 60 years old.
    • Autosomal-dominant inheritance was observed in at least 60% of families, with higher penetrance in males; caveolin-3 mutations were excluded in five families.

    Conclusions:

    • Idiopathic hyperCKemia is frequently familial and genetically heterogeneous.
    • The condition follows an autosomal-dominant inheritance pattern in a significant proportion of cases.
    • Familial IH is a benign condition with variable presentation and higher prevalence in males.