Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Satellite Stem Cells and Muscular Dystrophy

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...

Disorders of the Skeletal Muscle

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...

Myasthenia Gravis: Overview and Treatment

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...

You might also read

Related Articles

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

Sort by

Same author

Spatial inhibition of RhoA by RhoGAP15B promotes protrusive activity during collective migration.

The Journal of cell biology·2026

Same author

Erdheim-Chester Disease: A Diagnostic Challenge.

Cureus·2026

Same author

IgG4-Related Disease With Lung and Kidney Involvement: A Case Report.

Cureus·2026

Same author

Capture, mutual inhibition and release mechanism for aPKC-Par6 and its multisite polarity substrate Lgl.

Nature structural & molecular biology·2025

Same author

The Dystrophin-Dystroglycan complex ensures cytokinesis efficiency in Drosophila epithelia.

EMBO reports·2024

Same author

Febrile ulceronecrotic Mucha-Habermann disease - a case and treatment review.

Dermatology online journal·2024

Search research articles

Related Experiment Video

Updated: Aug 28, 2025

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

Systemic sclerosis in a patient with muscle dystrophy.

Sara Moutinho-Pereira¹, Eurico Morais-de-Sá², Helena Greenfield³

¹Department of Medicine, Service of Internal Medicine, Hospital Pedro Hispano, Matosinhos, Portugal sarasofia.pereira@ulsm.min-saude.pt.

BMJ Case Reports

|September 13, 2022

Summary

Genetic muscular dystrophy linked to a titin-cap/telethonin (TCAP) gene mutation may trigger systemic sclerosis. Mutant telethonin may mimic topoisomerase-I, potentially explaining the autoimmune disease development in this patient.

Keywords:

Connective tissue disease Drugs: respiratory system Genetics Immunology Interstitial lung disease

More Related Videos

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Published on: January 31, 2013

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Related Experiment Videos

Last Updated: Aug 28, 2025

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Published on: January 31, 2013

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Area of Science:

Immunology
Genetics
Rheumatology

Background:

Systemic sclerosis is an autoimmune disease often causing lung fibrosis and associated with anti-topoisomerase-I antibodies.
Genetic muscular dystrophy involves titin-cap/telethonin (TCAP) gene mutations, potentially affecting sarcomere integrity.
A patient with TCAP gene mutation developed severe lung disease secondary to systemic sclerosis.

Observation:

A young man with TCAP gene mutation-related muscular dystrophy developed severe lung disease and systemic sclerosis with positive anti-topoisomerase-I antibodies.
Analysis revealed mutant telethonin shares sequence homology with an immunodominant site on topoisomerase-I.

Findings:

Mutant telethonin may expose a sequence recognized by anti-topoisomerase-I antibodies.
This homology suggests a potential autoimmune trigger for systemic sclerosis in the context of genetic muscular dystrophy.

Implications:

This finding offers a potential explanation for the co-occurrence of systemic sclerosis and genetic muscular dystrophy in this patient.
It highlights a possible link between sarcomere protein abnormalities and autoimmune disease development.