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Related Concept Videos

Myocarditis I: Introduction01:21

Myocarditis I: Introduction

Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
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A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
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Myocarditis II: Clinical Features and Diagnostic Tests

Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
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The Inner Mitochondrial Membrane

The inner mitochondrial membrane is the primary site of ATP synthesis. The inner membrane domain that forms a smooth layer adjacent to the outer membrane is called the inner boundary membrane. This domain contains membrane transporters that drive metabolites in and out of the mitochondria.  In contrast, the inner membrane network that invaginates into the matrix space is called the cristae membrane. This domain accounts for principle mitochondrial function as it accommodates the protein...
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Related Experiment Video

Updated: May 8, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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An "inflammatory" mitochondrial myopathy. A case report.

Michelangelo Mancuso1, Daniele Orsucci, Elena Caldarazzo Ienco

  • 1Neurological Clinic, University of Pisa, Italy.

Neuromuscular Disorders : NMD
|September 10, 2013
PubMed
Summary

This case study highlights a mitochondrial DNA mutation (3251A>G) causing progressive external ophthalmoplegia and respiratory failure. Intravenous immunoglobulins and carnitine led to an excellent clinical outcome, suggesting a potential treatment for similar mitochondrial myopathy cases.

Keywords:
CPEOIVIgInflammationRespiratory failuremtDNA

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Last Updated: May 8, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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08:19

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Published on: May 5, 2022

Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Diseases

Background:

  • Mitochondrial myopathies can present with progressive muscle weakness and respiratory compromise.
  • The 3251A>G mutation in mitochondrial DNA has been linked to severe mitochondrial myopathy.

Observation:

  • An adult male with progressive external ophthalmoplegia and limb weakness experienced sudden respiratory failure.
  • Muscle biopsy revealed ragged-red and COX-negative fibers with inflammation and necrosis.

Findings:

  • Mitochondrial DNA analysis identified the 3251A>G mutation.
  • Treatment with intravenous immunoglobulins and carnitine resulted in an excellent clinical outcome.
  • The case suggests a potential role for immunoglobulins in managing acute respiratory failure in specific mitochondrial myopathy patients.

Implications:

  • This case expands the known clinical spectrum of the 3251A>G mitochondrial DNA mutation.
  • It supports the hypothesis that inflammation may contribute to the progression or exacerbation of mitochondrial diseases.
  • Further research is warranted to explore the therapeutic potential of immunoglobulins and the role of inflammation in mitochondrial myopathies.