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

[Centronuclear (myotubular) myopathy: a case report].

U C Reed1, A M Tsanaclis, L M Ferreira

  • 1Departamento de Neurologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo.

Revista Do Hospital Das Clinicas
|September 1, 1992
PubMed
Summary

This case study highlights centronuclear (myotubular) myopathy, a congenital muscle disease diagnosed in a 5-month-old infant. Early signs included delayed development and muscle weakness, confirmed by muscle biopsy showing central nuclei.

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

Atrial-septal-aneurysm-associated thrombus and stroke: Demonstration with transesophageal echocardiography.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association·2015
Same author

Life span of MRL/lpr/lpr mice.

Immunology today·2014
Same author

Dietary regulation of the autoimmune process in murine lupus.

Immunology today·2014
Same author

HIV-related symptoms and patient clusters among Chileans living with HIV.

AIDS care·2012
Same author

Virus-host interactions in HIV pathogenesis: directions for therapy.

Advances in dental research·2011
Same author

CD8+ cell noncytotoxic antiviral response in long-term HIV-1 infected former blood donors in China.

Current HIV research·2009

Area of Science:

  • Pediatric Neurology
  • Muscle Diseases
  • Congenital Myopathies

Background:

  • Centronuclear (myotubular) myopathy is a rare congenital muscle disorder.
  • Characterized by specific histological features and variable clinical presentation.
  • Early diagnosis is crucial for managing pediatric neuromuscular conditions.

Observation:

  • A 5-month-old female infant presented with delayed neuromotor development, hypotonia, muscle weakness, and bilateral ptosis from 2 months of age.
  • Clinical symptoms indicated a potential neuromuscular disorder requiring further investigation.
  • The patient's presentation highlighted the early-onset challenges associated with congenital myopathies.

Findings:

  • Muscle biopsy revealed characteristic features of centronuclear (myotubular) myopathy, including numerous muscle fibers with central nuclei.

Related Experiment Videos

  • Histological findings confirmed the diagnosis of this specific type of congenital myopathy.
  • The case underscores the diagnostic utility of muscle biopsy in identifying rare myopathies.

    • Implications:

    • Accurate histological characterization is vital for diagnosing centronuclear (myotubular) myopathy.
    • Recognizing the wide spectrum of clinical variability is essential for patient management.
    • This case contributes to understanding the phenotypic diversity and diagnostic challenges of congenital myopathies.