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

Desmin myopathy.

L G Goldfarb1, P Vicart, H H Goebel

  • 1National Institutes of Health, Bethesda, MD 20892-1361, USA. goldfarbl@ninds.nih.gov

Brain : a Journal of Neurology
|January 16, 2004
PubMed
Summary
This summary is machine-generated.

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

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Molecular genetics and metabolism·2016
Same author

[THE ANALYSIS OF LIFE SPAN AND MORTALITY OF PATIENTS WITH SPINOCEREBELLAR ATAXIA TYPE I].

Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny·2016
Same author

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

Acta neuropathologica communications·2016
Same author

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.

Journal of proteomics·2013
Same author

Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study.

Romanian journal of internal medicine = Revue roumaine de medecine interne·2011
Same author

Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.

Neuropediatrics·2010
Same journal

Disrupted WWOX-MYC interplay impairs neurogenesis in human brain organoids.

Brain : a journal of neurology·2026
Same journal

SMPD4 deficiency disrupts indirect neurogenesis and neuronal migration in gyrencephalic cortex.

Brain : a journal of neurology·2026
Same journal

Retinal hyper-reflective foci link retinal and cortical pathology in paediatric multiple sclerosis.

Brain : a journal of neurology·2026
Same journal

Two scripts, two pathways: dorsal-ventral biases in post-stroke kana-kanji agraphia.

Brain : a journal of neurology·2026
Same journal

Blood cytotoxic natural killer-like CD8 + CD94+ T cells migrate to the brain and predict multiple sclerosis severity.

Brain : a journal of neurology·2026
Same journal

Time to reconsider risk for psychosis?

Brain : a journal of neurology·2026
See all related articles

Desmin myopathy, caused by desmin or alphaB-crystallin gene mutations, leads to progressive muscle weakness and cardiomyopathy. Genetic testing is crucial for diagnosis and counseling.

Area of Science:

  • Muscle Diseases
  • Genetics
  • Cardiology

Background:

  • Desmin myopathy is a progressive neuromuscular disorder.
  • It stems from mutations in the desmin or alphaB-crystallin genes.
  • Affected individuals experience muscle weakness, cardiomyopathy, and potential sudden death.

Purpose of the Study:

  • To summarize the key features of desmin myopathy.
  • To highlight the genetic basis and pathological mechanisms.
  • To emphasize the importance of genetic testing and future research.

Main Methods:

  • Review of existing literature on desmin myopathy.
  • Analysis of pathological findings in affected muscle tissues.
  • Examination of genetic mutation data and cellular studies.

Related Experiment Videos

Main Results:

  • Desmin myopathy presents with progressive muscle weakness and cardiac involvement.
  • Mutations in desmin or alphaB-crystallin disrupt muscle fiber integrity.
  • Abnormal desmin aggregates and cytoskeletal disarray are characteristic findings.
  • Both familial and sporadic cases, often due to de novo mutations, are observed.

Conclusions:

  • Desmin myopathy is a serious condition requiring accurate diagnosis through genetic testing.
  • Understanding disease mechanisms is vital for developing targeted therapies.
  • Genetic counseling is essential for affected families.