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

Congenital myopathies

Carina Wallgren-Pettersson1

  • 1Department of Medical Genetics, University of Helsinki, Finland. carina.wallgren@helsinki.fi

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|February 11, 2005
PubMed
Summary

No abstract available in PubMed .

Related Experiment Videos

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

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.

JCI insight·2025
Same author

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Neurology. Genetics·2025
Same author

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

European journal of human genetics : EJHG·2025
Same author

A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.

Journal of neuromuscular diseases·2025
Same author

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Journal of neuromuscular diseases·2025
Same author

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

medRxiv : the preprint server for health sciences·2025